{"id":39,"date":"2021-02-10T16:14:48","date_gmt":"2021-02-10T16:14:48","guid":{"rendered":"https:\/\/www.lgmd-info.org\/?page_id=39"},"modified":"2023-10-18T18:16:50","modified_gmt":"2023-10-18T18:16:50","slug":"what-is-lgmd","status":"publish","type":"page","link":"https:\/\/www.lgmd-info.org\/pl\/knowledge-base\/all-about-lgmd\/what-is-lgmd\/","title":{"rendered":"Co to jest LGMD"},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\" style=\"--awb-font-size:var(--awb-typography1-font-size);--awb-line-height:var(--awb-typography1-line-height);--awb-letter-spacing:var(--awb-typography1-letter-spacing);--awb-text-transform:var(--awb-typography1-text-transform);--awb-text-font-family:var(--awb-typography1-font-family);--awb-text-font-weight:var(--awb-typography1-font-weight);--awb-text-font-style:var(--awb-typography1-font-style);\"><p>Przegl\u0105d LGMD<\/p>\n<\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-1 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:1;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:1;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-2\"><p>Z ponad 30 podtypami genetycznymi, dystrofia mi\u0119\u015bniowa ko\u0144czyn dolnych (LGMD) obejmuje grup\u0119 rzadkich schorze\u0144 mi\u0119\u015bni, kt\u00f3re os\u0142abiaj\u0105 mi\u0119\u015bnie ko\u0144czyn dolnych, te otaczaj\u0105ce ramiona i biodra. Nasilenie, wiek wyst\u0105pienia i cechy charakterystyczne LGMD r\u00f3\u017cni\u0105 si\u0119 w zale\u017cno\u015bci od r\u00f3\u017cnych podtyp\u00f3w, a nawet mog\u0105 si\u0119 r\u00f3\u017cni\u0107 w obr\u0119bie tej samej rodziny. Objawy mog\u0105 pojawi\u0107 si\u0119 w ka\u017cdym wieku i zwykle pogarszaj\u0105 si\u0119 z czasem, ale w niekt\u00f3rych przypadkach mog\u0105 pozosta\u0107 \u0142agodne.<\/p>\n<p>Wczesne oznaki LGMD cz\u0119sto obejmuj\u0105 nietypowy ch\u00f3d, taki jak ku\u015btykanie lub chodzenie na palcach, a tak\u017ce trudno\u015bci z bieganiem. Osoby dotkni\u0119te chorob\u0105 mog\u0105 mie\u0107 trudno\u015bci z podniesieniem si\u0119 z pozycji kucznej z powodu os\u0142abienia mi\u0119\u015bni ud. W miar\u0119 post\u0119pu LGMD niekt\u00f3re osoby mog\u0105 potrzebowa\u0107 pomocy w\u00f3zka inwalidzkiego.<\/p>\n<p>LGMD mo\u017ce prowadzi\u0107 do widocznych zmian fizycznych. Zanik mi\u0119\u015bni mo\u017ce zmieni\u0107 postaw\u0119 lub wygl\u0105d barku, plec\u00f3w i ramienia. S\u0142abe mi\u0119\u015bnie bark\u00f3w mog\u0105 powodowa\u0107 wystawanie \u0142opatek (\u0142opatek), co znane jest jako skrzywienie \u0142opatek. U niekt\u00f3rych os\u00f3b mo\u017ce r\u00f3wnie\u017c wyst\u0105pi\u0107 nieprawid\u0142owe wygi\u0119cie dolnej cz\u0119\u015bci plec\u00f3w (lordoza), kr\u0119gos\u0142up wygi\u0119ty w bok (skolioza) lub sztywno\u015b\u0107 staw\u00f3w (przykurcze). W niekt\u00f3rych przypadkach mo\u017ce doj\u015b\u0107 do przerostu (hipertrofii) mi\u0119\u015bni \u0142ydek.<\/p>\n<p>Niekt\u00f3re formy LGMD mog\u0105 os\u0142abia\u0107 mi\u0119sie\u0144 sercowy (kardiomiopatia). Niekt\u00f3re osoby mog\u0105 r\u00f3wnie\u017c do\u015bwiadcza\u0107 \u0142agodnych lub powa\u017cnych trudno\u015bci w oddychaniu z powodu os\u0142abienia mi\u0119\u015bni oddechowych. Nale\u017cy jednak zauwa\u017cy\u0107, \u017ce LGMD zazwyczaj nie wp\u0142ywa na inteligencj\u0119, chocia\u017c w niekt\u00f3rych rzadkich postaciach odnotowano op\u00f3\u017anienie rozwoju i niepe\u0142nosprawno\u015b\u0107 intelektualn\u0105.<\/p>\n<p>Liczne podtypy LGMD, z kt\u00f3rych ka\u017cdy jest identyfikowany na podstawie unikalnego wzorca dziedziczenia mutacji genu, s\u0105 z roku na rok coraz lepiej rozumiane w miar\u0119 post\u0119pu bada\u0144. Zaburzenie jest klasyfikowane jako autosomalne dominuj\u0105ce lub autosomalne recesywne. W 2017 r. zaktualizowano system nazewnictwa (nomenklatur\u0119) dla LGMD. [Link do dokumentu PDF: Ulotka informacyjna dla pacjenta dotycz\u0105ca nowego nazewnictwa LGMD].<\/p>\n<p>Dziedziczenie autosomalne dominuj\u0105ce: W tym schemacie jeden rodzic przekazuj\u0105cy zmutowany gen mo\u017ce spowodowa\u0107, \u017ce dziecko odziedziczy zaburzenie. Pomimo tego, \u017ce drugi gen pochodz\u0105cy od drugiego rodzica pozostaje nienaruszony, wadliwy gen dominuje. Zaburzenia autosomalne dominuj\u0105ce zwykle wyst\u0119puj\u0105 w ka\u017cdym pokoleniu bez przeskok\u00f3w.<\/p>\n<p>Dziedziczenie autosomalne recesywne: W tym schemacie oboje rodzice musz\u0105 by\u0107 nosicielami wadliwego genu, aby dziecko odziedziczy\u0142o chorob\u0119. Nosiciele genu zwykle nie wykazuj\u0105 \u017cadnych objaw\u00f3w. Mutacja recesywna mo\u017ce istnie\u0107 bez wywo\u0142ywania objaw\u00f3w, o ile druga kopia tego samego genu jest zdrowa. Autosomalne zaburzenia recesywne zwykle pojawiaj\u0105 si\u0119 bez znanej historii rodzinnej zaburzenia.<\/p>\n<\/div><\/div><\/div><\/div><\/div><div id=\"lgmdfacts\" class=\"fusion-container-anchor\"><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-2 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-2 fusion_builder_column_1_1 1_1 fusion-flex-column fusion-no-small-visibility\" style=\"--awb-padding-top:10px;--awb-padding-right:10px;--awb-padding-bottom:10px;--awb-padding-left:10px;--awb-overflow:hidden;--awb-bg-size:cover;--awb-border-radius:5px 5px 5px 5px;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-3\" style=\"--awb-font-size:var(--awb-typography1-font-size);--awb-line-height:var(--awb-typography1-line-height);--awb-letter-spacing:var(--awb-typography1-letter-spacing);--awb-text-transform:var(--awb-typography1-text-transform);--awb-text-font-family:var(--awb-typography1-font-family);--awb-text-font-weight:var(--awb-typography1-font-weight);--awb-text-font-style:var(--awb-typography1-font-style);\"><p>Fakty dotycz\u0105ce LGMD<\/p>\n<\/div><div class=\"fusion-text fusion-text-4\" style=\"--awb-text-transform:var(--awb-typography4-text-transform);--awb-text-color:var(--awb-color3);\"><p>Witamy w naszej obszernej sekcji po\u015bwi\u0119conej faktom na temat dystrofii mi\u0119\u015bniowej ko\u0144czyn dolnych (LGMD). Tutaj zag\u0142\u0119bimy si\u0119 w szeroki zakres temat\u00f3w, w tym podstawowe informacje i definicje, genetyk\u0119 i dziedziczenie, wykrywanie i progresj\u0119 oraz wp\u0142yw na codzienne \u017cycie i zarz\u0105dzanie. Przeanalizujemy r\u00f3wnie\u017c konkretne typy i odmiany LGMD, wp\u0142yw fizyczny i objawy oraz najnowsze informacje na temat leczenia i bada\u0144. Naszym celem jest zapewnienie dog\u0142\u0119bnego, wszechstronnego zrozumienia LGMD, wzmocnienie wiedzy i rzucenie \u015bwiat\u0142a na t\u0119 z\u0142o\u017con\u0105 chorob\u0119.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-3 fusion_builder_column_1_1 1_1 fusion-flex-column page-menu\" style=\"--awb-padding-top:10px;--awb-padding-right:10px;--awb-padding-bottom:10px;--awb-padding-left:10px;--awb-overflow:hidden;--awb-bg-size:cover;--awb-border-radius:5px 5px 5px 5px;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-5 awb-text-cols fusion-text-columns-3\" style=\"--awb-font-size:var(--awb-custom_typography_6-font-size);--awb-line-height:var(--awb-custom_typography_6-line-height);--awb-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-text-transform:var(--awb-custom_typography_6-text-transform);--awb-columns:3;--awb-column-spacing:2em;--awb-column-min-width:200px;--awb-rule-style:1px solid var(--awb-color2);--awb-text-font-family:var(--awb-custom_typography_6-font-family);--awb-text-font-weight:var(--awb-custom_typography_6-font-weight);--awb-text-font-style:var(--awb-custom_typography_6-font-style);\"><p><a class=\"fusion-one-page-text-link\" href=\"#basicinformation\">PODSTAWOWE INFORMACJE I DEFINICJE<\/a><\/p>\n<p><a class=\"fusion-one-page-text-link\" href=\"#GENETICS\">GENETYKA I DZIEDZICZENIE<\/a><\/p>\n<p><a class=\"fusion-one-page-text-link\" href=\"#DETECTION\">WYKRYWANIE I PROGRESJA<\/a><\/p>\n<p><a class=\"fusion-one-page-text-link\" href=\"#IMPACT\">WP\u0141YW NA CODZIENNE \u017bYCIE I ZARZ\u0104DZANIE<\/a><\/p>\n<p><a class=\"fusion-one-page-text-link\" href=\"#SPECIFICTYPES\">OKRE\u015aLONE TYPY I ODMIANY<\/a><\/p>\n<p><a class=\"fusion-one-page-text-link\" href=\"#SYMPTOMS\">WP\u0141YW FIZYCZNY I OBJAWY<\/a><\/p>\n<p><a class=\"fusion-one-page-text-link\" href=\"#TREATMENT\">LECZENIE I BADANIA<\/a><\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><div id=\"basicinformation\" class=\"fusion-container-anchor\"><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-3 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-4 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-overflow:hidden;--awb-bg-color:var(--awb-color4);--awb-bg-color-hover:var(--awb-color4);--awb-bg-size:cover;--awb-box-shadow:0px 0px 4px 0px var(--awb-color2);;--awb-border-radius:5px 5px 5px 5px;--awb-width-large:100%;--awb-margin-top-large:20px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-1 fusion-sep-none fusion-title-text fusion-title-size-three\" style=\"--awb-text-color:var(--awb-color1);--awb-margin-right:10px;--awb-margin-bottom:10px;--awb-margin-left:15px;--awb-font-size:var(--awb-typography5-font-size);\"><h3 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"font-family:var(--awb-typography5-font-family);font-weight:var(--awb-typography5-font-weight);font-style:var(--awb-typography5-font-style);margin:0;font-size:1em;letter-spacing:var(--awb-typography5-letter-spacing);text-transform:var(--awb-typography5-text-transform);--fontSize:26;--minFontSize:26;line-height:var(--awb-typography5-line-height);\">Podstawowe informacje i definicje<\/h3><\/div><div class=\"fusion-separator fusion-full-width-sep\" style=\"align-self: center;margin-left: auto;margin-right: auto;width:100%;\"><div class=\"fusion-separator-border sep-shadow\" style=\"--awb-height:20px;--awb-amount:20px;--awb-sep-color:var(--awb-color1);background:radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-webkit-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-moz-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-o-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);\"><\/div><\/div><div class=\"fusion-builder-row fusion-builder-row-inner fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"width:104% !important;max-width:104% !important;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column_inner fusion-builder-nested-column-0 fusion_builder_column_inner_1_1 1_1 fusion-flex-column\" style=\"--awb-padding-top:15px;--awb-padding-right:15px;--awb-padding-bottom:15px;--awb-padding-left:15px;--awb-bg-color:#f2f2f2;--awb-bg-color-hover:#f2f2f2;--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-2 fusion-sep-none fusion-title-text fusion-title-size-paragraph\"><p class=\"fusion-title-heading title-heading-left title-heading-tag fusion-responsive-typography-calculated\" style=\"margin:0;--fontSize:16;--minFontSize:16;line-height:var(--awb-custom_typography_6-line-height);\">Zapoznaj si\u0119 z podstawowymi poj\u0119ciami i terminologi\u0105, kt\u00f3re stanowi\u0105 podstaw\u0119 zrozumienia dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny dolnej (LGMD).<\/p><\/div><div class=\"accordian fusion-accordian\" style=\"margin-top:10px;margin-bottom:10px;--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-border-size:1px;--awb-icon-size:16px;--awb-content-font-size:var(--awb-custom_typography_6-font-size);--awb-content-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-content-text-transform:var(--awb-custom_typography_6-text-transform);--awb-content-line-height:var(--awb-custom_typography_6-line-height);--awb-icon-alignment:left;--awb-hover-color:var(--awb-color1);--awb-border-color:#e2e2e2;--awb-background-color:#ffffff;--awb-divider-color:#031698;--awb-divider-hover-color:#031698;--awb-icon-color:var(--awb-color4);--awb-title-color:var(--awb-color4);--awb-content-color:#575757;--awb-icon-box-color:#212934;--awb-toggle-hover-accent-color:var(--awb-color3);--awb-toggle-active-accent-color:var(--awb-color3);--awb-title-font-family:var(--awb-custom_typography_2-font-family);--awb-title-font-weight:var(--awb-custom_typography_2-font-weight);--awb-title-font-style:var(--awb-custom_typography_2-font-style);--awb-title-font-size:var(--awb-custom_typography_2-font-size);--awb-title-letter-spacing:var(--awb-custom_typography_2-letter-spacing);--awb-title-line-height:var(--awb-custom_typography_2-line-height);--awb-title-text-transform:var(--awb-custom_typography_2-text-transform);--awb-content-font-family:var(--awb-custom_typography_6-font-family);--awb-content-font-weight:var(--awb-custom_typography_6-font-weight);--awb-content-font-style:var(--awb-custom_typography_6-font-style);\"><div class=\"panel-group fusion-toggle-icon-unboxed\" id=\"accordion-39-1\"><div class=\"fusion-panel panel-default panel-8fa4b967cc6004812 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_8fa4b967cc6004812\"><a aria-expanded=\"false\" aria-controls=\"8fa4b967cc6004812\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-1\" data-target=\"#8fa4b967cc6004812\" href=\"#8fa4b967cc6004812\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\">LGMD oznacza \"dystrofi\u0119 mi\u0119\u015bniow\u0105 obr\u0119czy ko\u0144czyny\"... Grup\u0119 rzadkich chor\u00f3b nerwowo-mi\u0119\u015bniowych.<\/span><\/a><\/h5><\/div><div id=\"8fa4b967cc6004812\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_8fa4b967cc6004812\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Nazwa pochodzi od faktu, \u017ce choroba powoduje os\u0142abienie mi\u0119\u015bni g\u0142\u00f3wnie w biodrach i ramionach. Obr\u0119cz barkowa to struktura kostna otaczaj\u0105ca obszar ramion, a obr\u0119cz miedniczna to struktura kostna otaczaj\u0105ca biodra. \u0141\u0105cznie s\u0105 one nazywane \"pasami ko\u0144czyn\" i to w\u0142a\u015bnie mi\u0119\u015bnie po\u0142\u0105czone z \"pasami ko\u0144czyn\" s\u0105 najbardziej dotkni\u0119te LGMD. (Chocia\u017c niekt\u00f3re formy LGMD mog\u0105 powodowa\u0107 os\u0142abienie mi\u0119\u015bni, kt\u00f3re zaczyna si\u0119 g\u0142\u00f3wnie w dolnej cz\u0119\u015bci ko\u0144czyn).<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-9898222e2c430f315 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_9898222e2c430f315\"><a aria-expanded=\"false\" aria-controls=\"9898222e2c430f315\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-1\" data-target=\"#9898222e2c430f315\" href=\"#9898222e2c430f315\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\">Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyn (LGMD) odnosi si\u0119 do grupy rzadkich chor\u00f3b wyniszczaj\u0105cych mi\u0119\u015bnie.<\/span><\/a><\/h5><\/div><div id=\"9898222e2c430f315\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_9898222e2c430f315\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Mi\u0119\u015bnie najcz\u0119\u015bciej dotkni\u0119te LGMD to te najbli\u017cej cia\u0142a (mi\u0119\u015bnie proksymalne)... barki, ramiona, uda i obszar miednicy. Podczas gdy mi\u0119\u015bnie dystalne, te bardziej oddalone od cia\u0142a (takie jak d\u0142onie i stopy) mog\u0105 zosta\u0107 dotkni\u0119te w p\u00f3\u017anych stadiach LGMD, je\u015bli w og\u00f3le. Z czasem osoba z LGMD traci mas\u0119 i si\u0142\u0119 mi\u0119\u015bni.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-c42e8e31f69ca8358 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_c42e8e31f69ca8358\"><a aria-expanded=\"false\" aria-controls=\"c42e8e31f69ca8358\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-1\" data-target=\"#c42e8e31f69ca8358\" href=\"#c42e8e31f69ca8358\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\">Wszystkie podtypy lub formy dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny dolnej (LGMD) s\u0105 klasyfikowane jako choroby rzadkie.<\/span><\/a><\/h5><\/div><div id=\"c42e8e31f69ca8358\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_c42e8e31f69ca8358\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Choroba lub zaburzenie jest definiowane jako rzadkie w Europie, gdy dotyka mniej ni\u017c 1 na 2000 os\u00f3b. W USA choroba lub zaburzenie jest definiowane jako rzadkie, gdy dotyka mniej ni\u017c 200 000 Amerykan\u00f3w w danym czasie.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-e94b7d15a17fbdd8c fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_e94b7d15a17fbdd8c\"><a aria-expanded=\"false\" aria-controls=\"e94b7d15a17fbdd8c\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-1\" data-target=\"#e94b7d15a17fbdd8c\" href=\"#e94b7d15a17fbdd8c\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\">Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyn (LGMD) wyst\u0119puje we wszystkich cz\u0119\u015bciach \u015bwiata<\/span><\/a><\/h5><\/div><div id=\"e94b7d15a17fbdd8c\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_e94b7d15a17fbdd8c\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Wiadomo r\u00f3wnie\u017c, \u017ce LGMD wyst\u0119puje we wszystkich grupach etnicznych.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-3bfc57b947a230234 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_3bfc57b947a230234\"><a aria-expanded=\"false\" aria-controls=\"3bfc57b947a230234\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-1\" data-target=\"#3bfc57b947a230234\" href=\"#3bfc57b947a230234\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyny dolnej (LGMD) wyst\u0119puje w\u015br\u00f3d wszystkich grup etnicznych.<\/span><\/a><\/h5><\/div><div id=\"3bfc57b947a230234\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_3bfc57b947a230234\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>LGMD wyst\u0119puje we wszystkich cz\u0119\u015bciach \u015bwiata i mo\u017ce by\u0107 diagnozowana u kobiet i m\u0119\u017cczyzn. Objawy mog\u0105 pojawi\u0107 si\u0119 w ka\u017cdym wieku - w dzieci\u0144stwie, wieku nastoletnim i doros\u0142ym.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><div id=\"GENETICS\" class=\"fusion-container-anchor\"><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-4 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-5 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-overflow:hidden;--awb-bg-color:var(--awb-color4);--awb-bg-color-hover:var(--awb-color4);--awb-bg-size:cover;--awb-box-shadow:0px 0px 4px 0px var(--awb-color2);;--awb-border-radius:5px 5px 5px 5px;--awb-width-large:100%;--awb-margin-top-large:20px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-3 fusion-sep-none fusion-title-text fusion-title-size-three\" style=\"--awb-text-color:var(--awb-color1);--awb-margin-right:10px;--awb-margin-bottom:10px;--awb-margin-left:15px;--awb-font-size:var(--awb-typography5-font-size);\"><h3 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"font-family:var(--awb-typography5-font-family);font-weight:var(--awb-typography5-font-weight);font-style:var(--awb-typography5-font-style);margin:0;font-size:1em;letter-spacing:var(--awb-typography5-letter-spacing);text-transform:var(--awb-typography5-text-transform);--fontSize:26;--minFontSize:26;line-height:var(--awb-typography5-line-height);\">Genetyka i dziedziczenie<\/h3><\/div><div class=\"fusion-separator fusion-full-width-sep\" style=\"align-self: center;margin-left: auto;margin-right: auto;width:100%;\"><div class=\"fusion-separator-border sep-shadow\" style=\"--awb-height:20px;--awb-amount:20px;--awb-sep-color:var(--awb-color1);background:radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-webkit-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-moz-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-o-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);\"><\/div><\/div><div class=\"fusion-builder-row fusion-builder-row-inner fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"width:104% !important;max-width:104% !important;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column_inner fusion-builder-nested-column-1 fusion_builder_column_inner_1_1 1_1 fusion-flex-column\" style=\"--awb-padding-top:15px;--awb-padding-right:15px;--awb-padding-bottom:15px;--awb-padding-left:15px;--awb-bg-color:#f2f2f2;--awb-bg-color-hover:#f2f2f2;--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-6 fusion-text-no-margin\" style=\"--awb-font-size:var(--awb-custom_typography_6-font-size);--awb-line-height:var(--awb-custom_typography_6-line-height);--awb-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-text-transform:var(--awb-custom_typography_6-text-transform);--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-text-font-family:var(--awb-custom_typography_6-font-family);--awb-text-font-weight:var(--awb-custom_typography_6-font-weight);--awb-text-font-style:var(--awb-custom_typography_6-font-style);\"><p>Poznaj skomplikowane wzorce genetyczne i mechanizmy dziedziczenia, kt\u00f3re przyczyniaj\u0105 si\u0119 do wyst\u0105pienia dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyn (LGMD).<\/p>\n<\/div><div class=\"accordian fusion-accordian\" style=\"margin-top:10px;margin-bottom:10px;--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-border-size:1px;--awb-icon-size:16px;--awb-content-font-size:var(--awb-custom_typography_6-font-size);--awb-content-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-content-text-transform:var(--awb-custom_typography_6-text-transform);--awb-content-line-height:var(--awb-custom_typography_6-line-height);--awb-icon-alignment:left;--awb-hover-color:var(--awb-color1);--awb-border-color:#e2e2e2;--awb-background-color:#ffffff;--awb-divider-color:#031698;--awb-divider-hover-color:#031698;--awb-icon-color:var(--awb-color4);--awb-title-color:var(--awb-color4);--awb-content-color:#575757;--awb-icon-box-color:#212934;--awb-toggle-hover-accent-color:var(--awb-color3);--awb-toggle-active-accent-color:var(--awb-color3);--awb-title-font-family:var(--awb-custom_typography_2-font-family);--awb-title-font-weight:var(--awb-custom_typography_2-font-weight);--awb-title-font-style:var(--awb-custom_typography_2-font-style);--awb-title-font-size:var(--awb-custom_typography_2-font-size);--awb-title-letter-spacing:var(--awb-custom_typography_2-letter-spacing);--awb-title-line-height:var(--awb-custom_typography_2-line-height);--awb-title-text-transform:var(--awb-custom_typography_2-text-transform);--awb-content-font-family:var(--awb-custom_typography_6-font-family);--awb-content-font-weight:var(--awb-custom_typography_6-font-weight);--awb-content-font-style:var(--awb-custom_typography_6-font-style);\"><div class=\"panel-group fusion-toggle-icon-unboxed\" id=\"accordion-39-2\"><div class=\"fusion-panel panel-default panel-88985c0cbc461f890 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_88985c0cbc461f890\"><a aria-expanded=\"false\" aria-controls=\"88985c0cbc461f890\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-2\" data-target=\"#88985c0cbc461f890\" href=\"#88985c0cbc461f890\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyn (LGMD) to dziedziczne zaburzenia nerwowo-mi\u0119\u015bniowe.<\/span><\/a><\/h5><\/div><div id=\"88985c0cbc461f890\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_88985c0cbc461f890\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Ludzie rodz\u0105 si\u0119 z LGMD, kt\u00f3ra jest spowodowana specyficznymi mutacjami gen\u00f3w. Choroba LGMD nie jest zara\u017aliwa, nie jest spowodowana urazem ani \u017cadn\u0105 konkretn\u0105 czynno\u015bci\u0105.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-85b367c3cd782ce66 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_85b367c3cd782ce66\"><a aria-expanded=\"false\" aria-controls=\"85b367c3cd782ce66\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-2\" data-target=\"#85b367c3cd782ce66\" href=\"#85b367c3cd782ce66\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\">Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyny dolnej (LGMD) jest dziedziczna<\/span><\/a><\/h5><\/div><div id=\"85b367c3cd782ce66\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_85b367c3cd782ce66\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Podtypy LGMD z \"1\" w nomenklaturze (takie jak LGMD1A, LGMD1B, LGMD1C) maj\u0105 autosomalny dominuj\u0105cy wz\u00f3r dziedziczenia. W przypadku dziedziczenia autosomalnego dominuj\u0105cego tylko jedno z rodzic\u00f3w musi przekaza\u0107 zmutowany gen, aby zaburzenie zosta\u0142o odziedziczone. Nawet je\u015bli pasuj\u0105cy gen od drugiego rodzica pozostaje nienaruszony, wadliwy gen dominuje. Zaburzenia autosomalne dominuj\u0105ce zwykle pojawiaj\u0105 si\u0119 w ka\u017cdym pokoleniu bez przeskok\u00f3w.<\/p>\n<p>Podtypy LGMD z \"2\" w nomenklaturze (takie jak LGMD2A, LGMD2B, LGMD2C) maj\u0105 autosomalny recesywny wz\u00f3r dziedziczenia. W przypadku dziedziczenia autosomalnego recesywnego oboje rodzice musz\u0105 by\u0107 nosicielami wadliwego genu, aby ich dziecko odziedziczy\u0142o chorob\u0119. Wi\u0119kszo\u015b\u0107 form LGMD jest dziedziczona w spos\u00f3b recesywny (typ 2).<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-f6ddcf7a49fb45647 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_f6ddcf7a49fb45647\"><a aria-expanded=\"false\" aria-controls=\"f6ddcf7a49fb45647\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-2\" data-target=\"#f6ddcf7a49fb45647\" href=\"#f6ddcf7a49fb45647\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\">M\u0119\u017cczy\u017ani i kobiety mog\u0105 dziedziczy\u0107 dystrofi\u0119 mi\u0119\u015bniow\u0105 obr\u0119czy ko\u0144czyn (LGMD)<\/span><\/a><\/h5><\/div><div id=\"f6ddcf7a49fb45647\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_f6ddcf7a49fb45647\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyny dolnej nie dyskryminuje! Kobiety i m\u0119\u017cczy\u017ani mog\u0105 odziedziczy\u0107 t\u0119 post\u0119puj\u0105c\u0105 chorob\u0119 nerwowo-mi\u0119\u015bniow\u0105.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-37ee1f5e44ae97ffe fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_37ee1f5e44ae97ffe\"><a aria-expanded=\"false\" aria-controls=\"37ee1f5e44ae97ffe\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-2\" data-target=\"#37ee1f5e44ae97ffe\" href=\"#37ee1f5e44ae97ffe\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyny dolnej (LGMD) to choroba genetyczna, co oznacza, \u017ce ludzie si\u0119 z ni\u0105 rodz\u0105.<\/span><\/a><\/h5><\/div><div id=\"37ee1f5e44ae97ffe\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_37ee1f5e44ae97ffe\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>LGMD, kt\u00f3ra jest spowodowana specyficznymi mutacjami gen\u00f3w, kt\u00f3re ludzie dziedzicz\u0105. Choroba LGMD nie jest zara\u017aliwa, nie jest spowodowana urazem ani \u017cadn\u0105 konkretn\u0105 czynno\u015bci\u0105.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-0a9cf4b54d6c72e83 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_0a9cf4b54d6c72e83\"><a aria-expanded=\"false\" aria-controls=\"0a9cf4b54d6c72e83\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-2\" data-target=\"#0a9cf4b54d6c72e83\" href=\"#0a9cf4b54d6c72e83\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Rodzaje dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny z dominuj\u0105cym wzorcem dziedziczenia mog\u0105 wyst\u0119powa\u0107 w rodzinach, poniewa\u017c rodzice z mutacj\u0105 maj\u0105 szans\u0119 na przekazanie jej swoim dzieciom na poziomie 50%.<\/span><\/a><\/h5><\/div><div id=\"0a9cf4b54d6c72e83\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_0a9cf4b54d6c72e83\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Podtypy LGMD z \"1\" w nomenklaturze (takie jak LGMD1A, LGMD1B) maj\u0105 autosomalny dominuj\u0105cy wz\u00f3r dziedziczenia. W przypadku dziedziczenia autosomalnego dominuj\u0105cego tylko jedno z rodzic\u00f3w musi przekaza\u0107 zmutowany gen, aby zaburzenie zosta\u0142o odziedziczone. Nawet je\u015bli pasuj\u0105cy gen od drugiego rodzica pozostaje nienaruszony, wadliwy gen dominuje. Zaburzenia autosomalne dominuj\u0105ce zwykle pojawiaj\u0105 si\u0119 w ka\u017cdym pokoleniu bez przeskok\u00f3w.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><div id=\"DETECTION\" class=\"fusion-container-anchor\"><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-5 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-6 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-overflow:hidden;--awb-bg-color:var(--awb-color4);--awb-bg-color-hover:var(--awb-color4);--awb-bg-size:cover;--awb-box-shadow:0px 0px 4px 0px var(--awb-color2);;--awb-border-radius:5px 5px 5px 5px;--awb-width-large:100%;--awb-margin-top-large:20px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-4 fusion-sep-none fusion-title-text fusion-title-size-three\" style=\"--awb-text-color:var(--awb-color1);--awb-margin-right:10px;--awb-margin-bottom:10px;--awb-margin-left:15px;--awb-font-size:var(--awb-typography5-font-size);\"><h3 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"font-family:var(--awb-typography5-font-family);font-weight:var(--awb-typography5-font-weight);font-style:var(--awb-typography5-font-style);margin:0;font-size:1em;letter-spacing:var(--awb-typography5-letter-spacing);text-transform:var(--awb-typography5-text-transform);--fontSize:26;--minFontSize:26;line-height:var(--awb-typography5-line-height);\">Wykrywanie i post\u0119p<\/h3><\/div><div class=\"fusion-separator fusion-full-width-sep\" style=\"align-self: center;margin-left: auto;margin-right: auto;width:100%;\"><div class=\"fusion-separator-border sep-shadow\" style=\"--awb-height:20px;--awb-amount:20px;--awb-sep-color:var(--awb-color1);background:radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-webkit-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-moz-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-o-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);\"><\/div><\/div><div class=\"fusion-builder-row fusion-builder-row-inner fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"width:104% !important;max-width:104% !important;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column_inner fusion-builder-nested-column-2 fusion_builder_column_inner_1_1 1_1 fusion-flex-column\" style=\"--awb-padding-top:15px;--awb-padding-right:15px;--awb-padding-bottom:15px;--awb-padding-left:15px;--awb-bg-color:#f2f2f2;--awb-bg-color-hover:#f2f2f2;--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-7 fusion-text-no-margin\" style=\"--awb-font-size:var(--awb-custom_typography_6-font-size);--awb-line-height:var(--awb-custom_typography_6-line-height);--awb-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-text-transform:var(--awb-custom_typography_6-text-transform);--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-text-font-family:var(--awb-custom_typography_6-font-family);--awb-text-font-weight:var(--awb-custom_typography_6-font-weight);--awb-text-font-style:var(--awb-custom_typography_6-font-style);\"><p>Wczesne wykrywanie i o\u015b czasu progresji zwi\u0105zane z dystrofi\u0105 mi\u0119\u015bniow\u0105 obr\u0119czy ko\u0144czyny dolnej (LGMD).<\/p>\n<\/div><div class=\"accordian fusion-accordian\" style=\"margin-top:10px;margin-bottom:10px;--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-border-size:1px;--awb-icon-size:16px;--awb-content-font-size:var(--awb-custom_typography_6-font-size);--awb-content-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-content-text-transform:var(--awb-custom_typography_6-text-transform);--awb-content-line-height:var(--awb-custom_typography_6-line-height);--awb-icon-alignment:left;--awb-hover-color:var(--awb-color1);--awb-border-color:#e2e2e2;--awb-background-color:#ffffff;--awb-divider-color:#031698;--awb-divider-hover-color:#031698;--awb-icon-color:var(--awb-color4);--awb-title-color:var(--awb-color4);--awb-content-color:#575757;--awb-icon-box-color:#212934;--awb-toggle-hover-accent-color:var(--awb-color3);--awb-toggle-active-accent-color:var(--awb-color3);--awb-title-font-family:var(--awb-custom_typography_2-font-family);--awb-title-font-weight:var(--awb-custom_typography_2-font-weight);--awb-title-font-style:var(--awb-custom_typography_2-font-style);--awb-title-font-size:var(--awb-custom_typography_2-font-size);--awb-title-letter-spacing:var(--awb-custom_typography_2-letter-spacing);--awb-title-line-height:var(--awb-custom_typography_2-line-height);--awb-title-text-transform:var(--awb-custom_typography_2-text-transform);--awb-content-font-family:var(--awb-custom_typography_6-font-family);--awb-content-font-weight:var(--awb-custom_typography_6-font-weight);--awb-content-font-style:var(--awb-custom_typography_6-font-style);\"><div class=\"panel-group fusion-toggle-icon-unboxed\" id=\"accordion-39-3\"><div class=\"fusion-panel panel-default panel-48a7c3f5e1c43288e fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_48a7c3f5e1c43288e\"><a aria-expanded=\"false\" aria-controls=\"48a7c3f5e1c43288e\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-3\" data-target=\"#48a7c3f5e1c43288e\" href=\"#48a7c3f5e1c43288e\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyny dolnej (LGMD) ma charakter post\u0119puj\u0105cy, co oznacza, \u017ce os\u0142abienie mi\u0119\u015bni stale si\u0119 pog\u0142\u0119bia.<\/span><\/a><\/h5><\/div><div id=\"48a7c3f5e1c43288e\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_48a7c3f5e1c43288e\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Nie jest jeszcze mo\u017cliwe przewidzenie przebiegu LGMD u danej osoby. Tempo progresji mo\u017ce r\u00f3\u017cni\u0107 si\u0119 u poszczeg\u00f3lnych os\u00f3b, nawet w obr\u0119bie tego samego podtypu LGMD. Niekt\u00f3re formy zaburzenia prowadz\u0105 do utraty zdolno\u015bci chodzenia w ci\u0105gu kilku lat i powoduj\u0105 powa\u017cn\u0105 niepe\u0142nosprawno\u015b\u0107, podczas gdy inne post\u0119puj\u0105 bardzo powoli przez wiele lat i powoduj\u0105 minimaln\u0105 niepe\u0142nosprawno\u015b\u0107. W chwili obecnej nie mo\u017cna z ca\u0142\u0105 pewno\u015bci\u0105 przewidzie\u0107 progresji ka\u017cdego typu LGMD, chocia\u017c znajomo\u015b\u0107 mutacji genetycznej le\u017c\u0105cej u podstaw choroby mo\u017ce by\u0107 pomocna.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-b0c401679b410b99f fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_b0c401679b410b99f\"><a aria-expanded=\"false\" aria-controls=\"b0c401679b410b99f\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-3\" data-target=\"#b0c401679b410b99f\" href=\"#b0c401679b410b99f\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\">Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyny dolnej (LGMD) Objawy mog\u0105 pojawi\u0107 si\u0119 w ka\u017cdym wieku... w dzieci\u0144stwie, w wieku nastoletnim, w wieku doros\u0142ym lub nawet w p\u00f3\u017aniejszym okresie \u017cycia Dystrofia (LGMD) jest dziedziczna.<\/span><\/a><\/h5><\/div><div id=\"b0c401679b410b99f\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_b0c401679b410b99f\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Zazwyczaj im wcze\u015bniejszy pocz\u0105tek choroby, tym bardziej nasilone objawy w miar\u0119 up\u0142ywu czasu. Szybko\u015b\u0107 progresji r\u00f3\u017cni si\u0119 u poszczeg\u00f3lnych os\u00f3b i cz\u0119sto nie jest liniowa.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-cec5cbf71d40c6e49 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_cec5cbf71d40c6e49\"><a aria-expanded=\"false\" aria-controls=\"cec5cbf71d40c6e49\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-3\" data-target=\"#cec5cbf71d40c6e49\" href=\"#cec5cbf71d40c6e49\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Objawy i progresja dystrofii mi\u0119\u015bniowej ko\u0144czyn dolnych (LGMD) r\u00f3\u017cni\u0105 si\u0119 u pacjent\u00f3w tego samego podtypu, a nawet w obr\u0119bie tej samej rodziny.<\/span><\/a><\/h5><\/div><div id=\"cec5cbf71d40c6e49\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_cec5cbf71d40c6e49\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Nasilenie, wiek wyst\u0105pienia i cechy dystrofii mi\u0119\u015bniowej ko\u0144czyn dolnych r\u00f3\u017cni\u0105 si\u0119 w zale\u017cno\u015bci od wielu podtyp\u00f3w tej choroby i mog\u0105 by\u0107 niesp\u00f3jne nawet w tej samej rodzinie. Oznaki i objawy mog\u0105 pojawi\u0107 si\u0119 po raz pierwszy w ka\u017cdym wieku i og\u00f3lnie pogarszaj\u0105 si\u0119 z czasem, chocia\u017c w niekt\u00f3rych przypadkach pozostaj\u0105 \u0142agodne.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-944a642a0496da414 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_944a642a0496da414\"><a aria-expanded=\"false\" aria-controls=\"944a642a0496da414\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-3\" data-target=\"#944a642a0496da414\" href=\"#944a642a0496da414\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Podwy\u017cszony poziom kinazy kreatynowej (Ck) mo\u017ce by\u0107 jednym z pierwszych objaw\u00f3w LGMD.<\/span><\/a><\/h5><\/div><div id=\"944a642a0496da414\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_944a642a0496da414\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Na wczesnym etapie procesu diagnostycznego lekarze cz\u0119sto zlecaj\u0105 specjalne badanie krwi zwane poziomem CK. CK oznacza kinaz\u0119 kreatynow\u0105, enzym, kt\u00f3ry wycieka z uszkodzonych mi\u0119\u015bni. Gdy w pr\u00f3bce krwi stwierdza si\u0119 podwy\u017cszony poziom CK, zwykle oznacza to, \u017ce mi\u0119\u015bnie s\u0105 niszczone przez jaki\u015b nieprawid\u0142owy proces, taki jak dystrofia mi\u0119\u015bniowa lub stan zapalny. Dlatego wysoki poziom CK sugeruje, \u017ce mi\u0119\u015bnie same w sobie s\u0105 prawdopodobn\u0105 przyczyn\u0105 os\u0142abienia, ale nie m\u00f3wi dok\u0142adnie, czym mo\u017ce by\u0107 zaburzenie mi\u0119\u015bni.<\/p>\n<p>Poziom CK jest cz\u0119sto podwy\u017cszony w niekt\u00f3rych podtypach LGMD, ale mo\u017ce by\u0107 prawid\u0142owy w innych postaciach LGMD.   Podczas procesu diagnostycznego poziom CK jest jedn\u0105 ze wskaz\u00f3wek, kt\u00f3re mog\u0105 pom\u00f3c lekarzowi w rozr\u00f3\u017cnieniu mi\u0119dzy r\u00f3\u017cnymi podtypami LGMD i innymi chorobami mi\u0119\u015bni.  Diagnoza zwykle obejmuje po\u0142\u0105czenie informacji z objaw\u00f3w pacjenta i r\u00f3\u017cnych test\u00f3w, w tym kinazy kreatynowej (CK) w surowicy, biopsji mi\u0119\u015bni, badania elektromiograficznego (EMG) i test\u00f3w genetycznych.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-62f149c37c0fd88f5 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_62f149c37c0fd88f5\"><a aria-expanded=\"false\" aria-controls=\"62f149c37c0fd88f5\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-3\" data-target=\"#62f149c37c0fd88f5\" href=\"#62f149c37c0fd88f5\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Wczesne objawy dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyn mog\u0105 obejmowa\u0107 trudno\u015bci z wchodzeniem po schodach, cz\u0119ste upadki, trudno\u015bci z podnoszeniem si\u0119 z pozycji siedz\u0105cej, a nawet niezdolno\u015b\u0107 do stania na palcach.<\/span><\/a><\/h5><\/div><div id=\"62f149c37c0fd88f5\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_62f149c37c0fd88f5\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Wczesne objawy dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyn mog\u0105 obejmowa\u0107 trudno\u015bci z wchodzeniem po schodach, cz\u0119ste upadki, trudno\u015bci z podnoszeniem si\u0119 z pozycji siedz\u0105cej, a nawet niezdolno\u015b\u0107 do stania na palcach.<\/p>\n<p>Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyny dolnej (LGMD) to grupa chor\u00f3b genetycznych, kt\u00f3re powoduj\u0105 post\u0119puj\u0105ce os\u0142abienie i zanik mi\u0119\u015bni ramion i bioder. Objawy LGMD mog\u0105 si\u0119 znacznie r\u00f3\u017cni\u0107, ale cz\u0119sto zaczynaj\u0105 si\u0119 w dzieci\u0144stwie lub w okresie dojrzewania.<\/p>\n<p>Niekt\u00f3re z wczesnych objaw\u00f3w LGMD mog\u0105 obejmowa\u0107:<\/p>\n<ul>\n<li>Trudno\u015bci z wchodzeniem po schodach<\/li>\n<li>Cz\u0119ste upadki<\/li>\n<li>Trudno\u015bci z podnoszeniem si\u0119 z pozycji siedz\u0105cej<\/li>\n<li>Niezdolno\u015b\u0107 do stania na palcach<\/li>\n<li>Os\u0142abienie r\u0105k i n\u00f3g<\/li>\n<li>Skurcze mi\u0119\u015bni<\/li>\n<li>Zm\u0119czenie<\/li>\n<\/ul>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><div id=\"IMPACT\" class=\"fusion-container-anchor\"><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-6 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-7 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-overflow:hidden;--awb-bg-color:var(--awb-color4);--awb-bg-color-hover:var(--awb-color4);--awb-bg-size:cover;--awb-box-shadow:0px 0px 4px 0px var(--awb-color2);;--awb-border-radius:5px 5px 5px 5px;--awb-width-large:100%;--awb-margin-top-large:20px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-5 fusion-sep-none fusion-title-text fusion-title-size-three\" style=\"--awb-text-color:var(--awb-color1);--awb-margin-right:10px;--awb-margin-bottom:10px;--awb-margin-left:15px;--awb-font-size:var(--awb-typography5-font-size);\"><h3 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"font-family:var(--awb-typography5-font-family);font-weight:var(--awb-typography5-font-weight);font-style:var(--awb-typography5-font-style);margin:0;font-size:1em;letter-spacing:var(--awb-typography5-letter-spacing);text-transform:var(--awb-typography5-text-transform);--fontSize:26;--minFontSize:26;line-height:var(--awb-typography5-line-height);\">Wp\u0142yw na codzienne \u017cycie i zarz\u0105dzanie<\/h3><\/div><div class=\"fusion-separator fusion-full-width-sep\" style=\"align-self: center;margin-left: auto;margin-right: auto;width:100%;\"><div class=\"fusion-separator-border sep-shadow\" style=\"--awb-height:20px;--awb-amount:20px;--awb-sep-color:var(--awb-color1);background:radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-webkit-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-moz-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-o-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);\"><\/div><\/div><div class=\"fusion-builder-row fusion-builder-row-inner fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"width:104% !important;max-width:104% !important;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column_inner fusion-builder-nested-column-3 fusion_builder_column_inner_1_1 1_1 fusion-flex-column\" style=\"--awb-padding-top:15px;--awb-padding-right:15px;--awb-padding-bottom:15px;--awb-padding-left:15px;--awb-bg-color:#f2f2f2;--awb-bg-color-hover:#f2f2f2;--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-8 fusion-text-no-margin\" style=\"--awb-font-size:var(--awb-custom_typography_6-font-size);--awb-line-height:var(--awb-custom_typography_6-line-height);--awb-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-text-transform:var(--awb-custom_typography_6-text-transform);--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-text-font-family:var(--awb-custom_typography_6-font-family);--awb-text-font-weight:var(--awb-custom_typography_6-font-weight);--awb-text-font-style:var(--awb-custom_typography_6-font-style);\"><p>Odkryj codzienne wyzwania zwi\u0105zane z dystrofi\u0105 mi\u0119\u015bniow\u0105 ko\u0144czyn dolnych (LGMD) i poznaj skuteczne strategie zarz\u0105dzania i adaptacji.<\/p>\n<\/div><div class=\"accordian fusion-accordian\" style=\"margin-top:10px;margin-bottom:10px;--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-border-size:1px;--awb-icon-size:16px;--awb-content-font-size:var(--awb-custom_typography_6-font-size);--awb-content-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-content-text-transform:var(--awb-custom_typography_6-text-transform);--awb-content-line-height:var(--awb-custom_typography_6-line-height);--awb-icon-alignment:left;--awb-hover-color:var(--awb-color1);--awb-border-color:#e2e2e2;--awb-background-color:#ffffff;--awb-divider-color:#031698;--awb-divider-hover-color:#031698;--awb-icon-color:var(--awb-color4);--awb-title-color:var(--awb-color4);--awb-content-color:#575757;--awb-icon-box-color:#212934;--awb-toggle-hover-accent-color:var(--awb-color3);--awb-toggle-active-accent-color:var(--awb-color3);--awb-title-font-family:var(--awb-custom_typography_2-font-family);--awb-title-font-weight:var(--awb-custom_typography_2-font-weight);--awb-title-font-style:var(--awb-custom_typography_2-font-style);--awb-title-font-size:var(--awb-custom_typography_2-font-size);--awb-title-letter-spacing:var(--awb-custom_typography_2-letter-spacing);--awb-title-line-height:var(--awb-custom_typography_2-line-height);--awb-title-text-transform:var(--awb-custom_typography_2-text-transform);--awb-content-font-family:var(--awb-custom_typography_6-font-family);--awb-content-font-weight:var(--awb-custom_typography_6-font-weight);--awb-content-font-style:var(--awb-custom_typography_6-font-style);\"><div class=\"panel-group fusion-toggle-icon-unboxed\" id=\"accordion-39-4\"><div class=\"fusion-panel panel-default panel-d24a6bd7b7ac9e22e fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_d24a6bd7b7ac9e22e\"><a aria-expanded=\"false\" aria-controls=\"d24a6bd7b7ac9e22e\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-4\" data-target=\"#d24a6bd7b7ac9e22e\" href=\"#d24a6bd7b7ac9e22e\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Wiele os\u00f3b cierpi\u0105cych na dystrofi\u0119 mi\u0119\u015bniow\u0105 obr\u0119czy ko\u0144czyny dolnej (LGMD) ostatecznie traci zdolno\u015b\u0107 chodzenia i staje si\u0119 ca\u0142kowicie zale\u017cnych od w\u00f3zk\u00f3w inwalidzkich.<\/span><\/a><\/h5><\/div><div id=\"d24a6bd7b7ac9e22e\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_d24a6bd7b7ac9e22e\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Nie jest jeszcze mo\u017cliwe przewidzenie przebiegu LGMD u danej osoby.  Tempo progresji mo\u017ce r\u00f3\u017cni\u0107 si\u0119 u poszczeg\u00f3lnych os\u00f3b, nawet w obr\u0119bie tego samego podtypu LGMD. Niekt\u00f3re formy zaburzenia prowadz\u0105 do utraty zdolno\u015bci chodzenia w ci\u0105gu kilku lat i powoduj\u0105 powa\u017cn\u0105 niepe\u0142nosprawno\u015b\u0107, podczas gdy inne post\u0119puj\u0105 bardzo powoli przez wiele lat i powoduj\u0105 minimaln\u0105 niepe\u0142nosprawno\u015b\u0107.  W chwili obecnej nie mo\u017cna z ca\u0142\u0105 pewno\u015bci\u0105 przewidzie\u0107 progresji ka\u017cdego typu LGMD, chocia\u017c znajomo\u015b\u0107 mutacji genetycznej le\u017c\u0105cej u podstaw choroby mo\u017ce by\u0107 pomocna.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-8974e70fbe748ca53 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_8974e70fbe748ca53\"><a aria-expanded=\"false\" aria-controls=\"8974e70fbe748ca53\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-4\" data-target=\"#8974e70fbe748ca53\" href=\"#8974e70fbe748ca53\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> U os\u00f3b z LGMD mo\u017ce wyst\u0105pi\u0107 nieprawid\u0142owe skrzywienie kr\u0119gos\u0142upa.<\/span><\/a><\/h5><\/div><div id=\"8974e70fbe748ca53\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_8974e70fbe748ca53\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Wraz z post\u0119puj\u0105cym os\u0142abieniem mi\u0119\u015bni, osoba z LGMD mo\u017ce do\u015bwiadczy\u0107 zmiany postawy. Skolioza odnosi si\u0119 do nieprawid\u0142owego skrzywienia kr\u0119gos\u0142upa na boki. Nieprawid\u0142owa krzywizna dolnej cz\u0119\u015bci kr\u0119gos\u0142upa od przodu do ty\u0142u znana jest jako lordoza.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-03df60255f8f4b51b fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_03df60255f8f4b51b\"><a aria-expanded=\"false\" aria-controls=\"03df60255f8f4b51b\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-4\" data-target=\"#03df60255f8f4b51b\" href=\"#03df60255f8f4b51b\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Wiele os\u00f3b z LGMD mo\u017ce prowadzi\u0107 aktywny tryb \u017cycia, w tym uprawia\u0107 sport.<\/span><\/a><\/h5><\/div><div id=\"03df60255f8f4b51b\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_03df60255f8f4b51b\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Dla os\u00f3b z niepe\u0142nosprawno\u015bci\u0105 fizyczn\u0105, tak\u0105 jak os\u0142abienie mi\u0119\u015bni spowodowane LGMD, nadal istnieje wiele adaptacyjnych program\u00f3w sportowych i rekreacyjnych, z kt\u00f3rych mo\u017cna korzysta\u0107 dla zdrowia, dobrego samopoczucia, rekreacji, korzy\u015bci spo\u0142ecznych i rywalizacji.<\/p>\n<p>Niekt\u00f3re ze sport\u00f3w adaptacyjnych dla os\u00f3b niepe\u0142nosprawnych obejmuj\u0105 jazd\u0119 konn\u0105, golf, narty wodne, spadochroniarstwo, wios\u0142owanie, \u017ceglarstwo, tenis, koszyk\u00f3wk\u0119, hokej, strzelanie do celu, \u0142ucznictwo, bilard, w\u0119dkarstwo, my\u015blistwo, tenis sto\u0142owy, snorkeling, kr\u0119gle, nurkowanie, narty \u015bnie\u017cne i wiele innych.<\/p>\n<p>Przed wzi\u0119ciem udzia\u0142u w zaj\u0119ciach rekreacyjnych lub uprawianiu sportu nale\u017cy skonsultowa\u0107 si\u0119 z fizjoterapeut\u0105 lub lekarzem, aby upewni\u0107 si\u0119, \u017ce stan zdrowia jest wystarczaj\u0105cy do \u0107wicze\u0144 i jakie ilo\u015bci aktywno\u015bci fizycznej s\u0105 dla Ciebie bezpieczne. Fizjoterapeuta mo\u017ce pom\u00f3c w okre\u015bleniu mo\u017cliwych modyfikacji sprz\u0119tu i doradzi\u0107, kt\u00f3re aktywno\u015bci mog\u0105 by\u0107 dla Ciebie najlepsze.<\/p>\n<p>Wiele organizacji zajmuje si\u0119 zapewnieniem osobom niepe\u0142nosprawnym mo\u017cliwo\u015bci uprawiania sportu i rekreacji wszelkiego rodzaju. Mo\u017cesz skontaktowa\u0107 si\u0119 z lokalnym o\u015brodkiem rehabilitacyjnym lub klubem sportowym lub stowarzyszeniem, aby sprawdzi\u0107, czy program adaptacyjny jest dost\u0119pny w Twojej okolicy.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-5dcffa231ba6d1d5b fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_5dcffa231ba6d1d5b\"><a aria-expanded=\"false\" aria-controls=\"5dcffa231ba6d1d5b\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-4\" data-target=\"#5dcffa231ba6d1d5b\" href=\"#5dcffa231ba6d1d5b\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Osoby, u kt\u00f3rych zdiagnozowano LGMD powinny mie\u0107 lekarza podstawowej opieki zdrowotnej opr\u00f3cz neurologa.<\/span><\/a><\/h5><\/div><div id=\"5dcffa231ba6d1d5b\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_5dcffa231ba6d1d5b\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Wa\u017cne jest, aby osoby z LGMD mia\u0142y lekarza podstawowej opieki zdrowotnej (takiego jak lekarz rodzinny, internista, pediatra) opr\u00f3cz neurologa.<\/p>\n<p>Lekarz podstawowej opieki zdrowotnej b\u0119dzie lekarzem, do kt\u00f3rego nale\u017cy si\u0119 uda\u0107 w celu uzyskania rutynowej opieki medycznej. Pami\u0119taj, \u017ce zdiagnozowanie LGMD nie chroni przed powszechnymi chorobami - takimi jak infekcje ucha i ospa wietrzna u dzieci lub wysokie ci\u015bnienie krwi, cukrzyca i rak u doros\u0142ych - dlatego warto mie\u0107 lekarza podstawowej opieki zdrowotnej! Lekarz podstawowej opieki zdrowotnej zawsze mo\u017ce skierowa\u0107 do lekarzy specjalist\u00f3w i\/lub innych pracownik\u00f3w s\u0142u\u017cby zdrowia, je\u015bli zajdzie taka potrzeba.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><div id=\"SPECIFICTYPES\" class=\"fusion-container-anchor\"><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-7 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-8 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-overflow:hidden;--awb-bg-color:var(--awb-color4);--awb-bg-color-hover:var(--awb-color4);--awb-bg-size:cover;--awb-box-shadow:0px 0px 4px 0px var(--awb-color2);;--awb-border-radius:5px 5px 5px 5px;--awb-width-large:100%;--awb-margin-top-large:20px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-6 fusion-sep-none fusion-title-text fusion-title-size-three\" style=\"--awb-text-color:var(--awb-color1);--awb-margin-right:10px;--awb-margin-bottom:10px;--awb-margin-left:15px;--awb-font-size:var(--awb-typography5-font-size);\"><h3 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"font-family:var(--awb-typography5-font-family);font-weight:var(--awb-typography5-font-weight);font-style:var(--awb-typography5-font-style);margin:0;font-size:1em;letter-spacing:var(--awb-typography5-letter-spacing);text-transform:var(--awb-typography5-text-transform);--fontSize:26;--minFontSize:26;line-height:var(--awb-typography5-line-height);\">Okre\u015blone typy i odmiany<\/h3><\/div><div class=\"fusion-separator fusion-full-width-sep\" style=\"align-self: center;margin-left: auto;margin-right: auto;width:100%;\"><div class=\"fusion-separator-border sep-shadow\" style=\"--awb-height:20px;--awb-amount:20px;--awb-sep-color:var(--awb-color1);background:radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-webkit-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-moz-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-o-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);\"><\/div><\/div><div class=\"fusion-builder-row fusion-builder-row-inner fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"width:104% !important;max-width:104% !important;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column_inner fusion-builder-nested-column-4 fusion_builder_column_inner_1_1 1_1 fusion-flex-column\" style=\"--awb-padding-top:15px;--awb-padding-right:15px;--awb-padding-bottom:15px;--awb-padding-left:15px;--awb-bg-color:#f2f2f2;--awb-bg-color-hover:#f2f2f2;--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-9 fusion-text-no-margin\" style=\"--awb-font-size:var(--awb-custom_typography_6-font-size);--awb-line-height:var(--awb-custom_typography_6-line-height);--awb-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-text-transform:var(--awb-custom_typography_6-text-transform);--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-text-font-family:var(--awb-custom_typography_6-font-family);--awb-text-font-weight:var(--awb-custom_typography_6-font-weight);--awb-text-font-style:var(--awb-custom_typography_6-font-style);\"><p>Zapoznaj si\u0119 z r\u00f3\u017cnymi typami i odmianami dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny dolnej (LGMD), z kt\u00f3rych ka\u017cda ma unikalne pochodzenie genetyczne i objawy kliniczne.<\/p>\n<\/div><div class=\"accordian fusion-accordian\" style=\"margin-top:10px;margin-bottom:10px;--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-border-size:1px;--awb-icon-size:16px;--awb-content-font-size:var(--awb-custom_typography_6-font-size);--awb-content-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-content-text-transform:var(--awb-custom_typography_6-text-transform);--awb-content-line-height:var(--awb-custom_typography_6-line-height);--awb-icon-alignment:left;--awb-hover-color:var(--awb-color1);--awb-border-color:#e2e2e2;--awb-background-color:#ffffff;--awb-divider-color:#031698;--awb-divider-hover-color:#031698;--awb-icon-color:var(--awb-color4);--awb-title-color:var(--awb-color4);--awb-content-color:#575757;--awb-icon-box-color:#212934;--awb-toggle-hover-accent-color:var(--awb-color3);--awb-toggle-active-accent-color:var(--awb-color3);--awb-title-font-family:var(--awb-custom_typography_2-font-family);--awb-title-font-weight:var(--awb-custom_typography_2-font-weight);--awb-title-font-style:var(--awb-custom_typography_2-font-style);--awb-title-font-size:var(--awb-custom_typography_2-font-size);--awb-title-letter-spacing:var(--awb-custom_typography_2-letter-spacing);--awb-title-line-height:var(--awb-custom_typography_2-line-height);--awb-title-text-transform:var(--awb-custom_typography_2-text-transform);--awb-content-font-family:var(--awb-custom_typography_6-font-family);--awb-content-font-weight:var(--awb-custom_typography_6-font-weight);--awb-content-font-style:var(--awb-custom_typography_6-font-style);\"><div class=\"panel-group fusion-toggle-icon-unboxed\" id=\"accordion-39-5\"><div class=\"fusion-panel panel-default panel-5de4e187696bf0f77 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_5de4e187696bf0f77\"><a aria-expanded=\"false\" aria-controls=\"5de4e187696bf0f77\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-5\" data-target=\"#5de4e187696bf0f77\" href=\"#5de4e187696bf0f77\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Istnieje ponad 30 r\u00f3\u017cnych typ\u00f3w dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny dolnej (LGMD), z kt\u00f3rych ka\u017cdy spowodowany jest mutacjami w innym genie.<\/span><\/a><\/h5><\/div><div id=\"5de4e187696bf0f77\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_5de4e187696bf0f77\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Testy genetyczne z wykorzystaniem pr\u00f3bki \u015bliny lub krwi s\u0105 wykorzystywane do potwierdzenia diagnozy LGMD w oparciu o znan\u0105 mutacj\u0119 genu.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-09ae4b6fe550ad363 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_09ae4b6fe550ad363\"><a aria-expanded=\"false\" aria-controls=\"09ae4b6fe550ad363\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-5\" data-target=\"#09ae4b6fe550ad363\" href=\"#09ae4b6fe550ad363\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Podtypy dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny dolnej (LGMD) z autosomalnym dominuj\u0105cym wzorcem dziedziczenia s\u0105 klasyfikowane jako LGMD typu 1 (LGMD1).<\/span><\/a><\/h5><\/div><div id=\"09ae4b6fe550ad363\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_09ae4b6fe550ad363\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Podtypy LGMD z \"1\" w nomenklaturze (takie jak LGMD1A, LGMD1B) maj\u0105 autosomalny dominuj\u0105cy wz\u00f3r dziedziczenia.  W przypadku dziedziczenia autosomalnego dominuj\u0105cego tylko jedno z rodzic\u00f3w musi przekaza\u0107 zmutowany gen, aby zaburzenie zosta\u0142o odziedziczone.  Nawet je\u015bli pasuj\u0105cy gen od drugiego rodzica pozostaje nienaruszony, wadliwy gen dominuje.   Zaburzenia autosomalne dominuj\u0105ce zwykle pojawiaj\u0105 si\u0119 w ka\u017cdym pokoleniu bez przeskok\u00f3w.<\/p>\n<p>Je\u015bli osoba dotkni\u0119ta zaburzeniem dziedziczonym autosomalnie dominuj\u0105co zdecyduje si\u0119 na posiadanie dzieci, ka\u017cde z potomstwa ma szans\u0119 na odziedziczenie wadliwego genu i rozwini\u0119cie zaburzenia na poziomie 50%. Dzieci, kt\u00f3re nie odziedzicz\u0105 wadliwego genu, nie rozwin\u0105 ani nie przeka\u017c\u0105 zaburzenia swojemu potomstwu.<\/p>\n<p>Osoby z autosomalnym dominuj\u0105cym wzorcem LGMD s\u0105 klasyfikowane jako \"typ 1\". Po zidentyfikowaniu konkretnego zmutowanego genu, przypisywana jest litera oznaczaj\u0105ca konkretny podtyp LGMD.  Na przyk\u0142ad, osoba, kt\u00f3ra odziedziczy\u0142a mutacj\u0119 w genie CAV3 w spos\u00f3b dominuj\u0105cy, jest identyfikowana jako chora na LGMD typu 1C lub LGMD1C.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-a31e76eea47c3e0c1 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_a31e76eea47c3e0c1\"><a aria-expanded=\"false\" aria-controls=\"a31e76eea47c3e0c1\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-5\" data-target=\"#a31e76eea47c3e0c1\" href=\"#a31e76eea47c3e0c1\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Podtypy dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyn (LGMD) z autosomalnym recesywnym wzorcem dziedziczenia s\u0105 klasyfikowane jako LGMD typu 2 (LGMD2).<\/span><\/a><\/h5><\/div><div id=\"a31e76eea47c3e0c1\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_a31e76eea47c3e0c1\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Podtypy LGMD z \"2\" w nomenklaturze (takie jak LGMD2A, LGMD2B) maj\u0105 autosomalny recesywny wz\u00f3r dziedziczenia. W przypadku dziedziczenia autosomalnego recesywnego oboje rodzice musz\u0105 by\u0107 nosicielami wadliwego genu, aby ich dziecko odziedziczy\u0142o chorob\u0119. Nosiciel jest nosicielem wadliwego genu, ale zwykle nie wykazuje \u017cadnych objaw\u00f3w. Gdy mutacja jest recesywna, mo\u017ce wyst\u0119powa\u0107 u danej osoby bez \u017cadnych objaw\u00f3w, o ile druga kopia tego samego genu jest zdrowa. Nienaruszony gen maskuje mutacj\u0119. Je\u015bli jednak dziecko odziedziczy dwie kopie zmutowanego genu, nie ma zdrowej alternatywy, kt\u00f3ra blokowa\u0142aby wadliwy gen, a wi\u0119c objawy si\u0119 ujawniaj\u0105.<\/p>\n<p>Je\u015bli oboje rodzice maj\u0105 jedn\u0105 kopi\u0119 zmutowanego genu, przy ka\u017cdej ci\u0105\u017cy istnieje 25% prawdopodobie\u0144stwo, \u017ce dziecko otrzyma wadliwy gen od ka\u017cdego z rodzic\u00f3w, a tym samym b\u0119dzie dotkni\u0119te zaburzeniem. Je\u015bli dziecko odziedziczy wadliwy gen tylko od jednego z rodzic\u00f3w, b\u0119dzie ono nosicielem zaburzenia. Zaburzenia autosomalne recesywne zwykle pojawiaj\u0105 si\u0119, gdy nie ma znanej historii rodzinnej zaburzenia<\/p>\n<p>Osoby z autosomalnym recesywnym wzorcem LGMD s\u0105 klasyfikowane jako \"typ 2\". Po zidentyfikowaniu okre\u015blonych gen\u00f3w przypisywana jest litera w celu oznaczenia konkretnego podtypu. Na przyk\u0142ad, osoba, kt\u00f3ra odziedziczy\u0142a mutacj\u0119 w genie CAP3 w uk\u0142adzie recesywnym, zostanie zidentyfikowana jako cierpi\u0105ca na LGMD typu 2A lub LGMD2A.<\/p>\n<p>Wi\u0119kszo\u015b\u0107 form LGMD jest dziedziczona w spos\u00f3b recesywny (typ 2).<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-c5192a848c0387fa1 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_c5192a848c0387fa1\"><a aria-expanded=\"false\" aria-controls=\"c5192a848c0387fa1\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-5\" data-target=\"#c5192a848c0387fa1\" href=\"#c5192a848c0387fa1\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Znaleziono 26 r\u00f3\u017cnych form genetycznych recesywnej choroby LGMD: LGMD2A - 2Z<\/span><\/a><\/h5><\/div><div id=\"c5192a848c0387fa1\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_c5192a848c0387fa1\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>System nazewnictwa LGMD (typy z dominuj\u0105cym dziedziczeniem to 1A, 1B, itd., typy z recesywnym dziedziczeniem to 2A, 2B, ...) zosta\u0142 stworzony w 1995 roku, kiedy zidentyfikowano tylko kilka gen\u00f3w odpowiedzialnych za LGMD. Obecnie znaleziono tak wiele form genetycznych LGMD, \u017ce dla recesywnych typ\u00f3w LGMD alfabet zosta\u0142 wyczerpany: 2A do 2Z zosta\u0142y przypisane do r\u00f3\u017cnych gen\u00f3w. Doprowadzi\u0142o to do mi\u0119dzynarodowego spotkania ekspert\u00f3w LGMD, kt\u00f3re odby\u0142o si\u0119 w Holandii w marcu 2017 r. w celu opracowania nowego systemu nazewnictwa w miar\u0119 odkrywania kolejnych typ\u00f3w genetycznych.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-c8792e23319e00899 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_c8792e23319e00899\"><a aria-expanded=\"false\" aria-controls=\"c8792e23319e00899\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-5\" data-target=\"#c8792e23319e00899\" href=\"#c8792e23319e00899\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Nasilenie, wiek wyst\u0105pienia i objawy dystrofii mi\u0119\u015bni obr\u0119czy ko\u0144czyny dolnej (LGMD) r\u00f3\u017cni\u0105 si\u0119 w zale\u017cno\u015bci od wielu podtyp\u00f3w lub postaci tego schorzenia.<\/span><\/a><\/h5><\/div><div id=\"c8792e23319e00899\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_c8792e23319e00899\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Nie jest jeszcze mo\u017cliwe przewidzenie przebiegu LGMD u danej osoby. Wiek zachorowania i tempo progresji mog\u0105 r\u00f3\u017cni\u0107 si\u0119 u poszczeg\u00f3lnych os\u00f3b, nawet w obr\u0119bie tego samego podtypu LGMD. Chocia\u017c nie mo\u017cna z ca\u0142\u0105 pewno\u015bci\u0105 przewidzie\u0107 progresji w ka\u017cdym typie LGMD, znajomo\u015b\u0107 mutacji genetycznej le\u017c\u0105cej u podstaw choroby mo\u017ce by\u0107 pomocna w leczeniu.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-2e6403f1baa06e626 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_2e6403f1baa06e626\"><a aria-expanded=\"false\" aria-controls=\"2e6403f1baa06e626\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-5\" data-target=\"#2e6403f1baa06e626\" href=\"#2e6403f1baa06e626\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Poniewa\u017c r\u00f3\u017cne formy dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny dolnej (LGMD) wygl\u0105daj\u0105 bardzo podobnie w badaniach klinicznych, do potwierdzenia diagnozy wymagane s\u0105 testy genetyczne.<\/span><\/a><\/h5><\/div><div id=\"2e6403f1baa06e626\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_2e6403f1baa06e626\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Aby uzyska\u0107 informacje na temat test\u00f3w genetycznych w kierunku LGMD, odwied\u017a stron\u0119 zasob\u00f3w LGMD na naszej stronie internetowej. Bardzo wa\u017cne jest, aby uzyska\u0107 genetycznie potwierdzon\u0105 diagnoz\u0119 LGMD. Je\u015bli lekarz powie Ci, \u017ce cierpisz na LGMD, ale nie potwierdzi tego genetycznie, Twoja diagnoza b\u0119dzie niepe\u0142na.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-00c541290e123438f fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_00c541290e123438f\"><a aria-expanded=\"false\" aria-controls=\"00c541290e123438f\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-5\" data-target=\"#00c541290e123438f\" href=\"#00c541290e123438f\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Dystalne mi\u0119\u015bnie (te bardziej oddalone od centrum - takie jak w d\u0142oniach i stopach) s\u0105 dotkni\u0119te p\u00f3\u017anymi stadiami dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyn (LGMD), je\u015bli w og\u00f3le.<\/span><\/a><\/h5><\/div><div id=\"00c541290e123438f\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_00c541290e123438f\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Mi\u0119\u015bnie najcz\u0119\u015bciej dotkni\u0119te LGMD to zazwyczaj te najbli\u017cej cia\u0142a (mi\u0119\u015bnie proksymalne)... barki, ramiona, uda i obszar miednicy.    Z czasem osoba z LGMD traci mas\u0119 i si\u0142\u0119 mi\u0119\u015bni.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><div id=\"SYMPTOMS\" class=\"fusion-container-anchor\"><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-8 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-9 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-overflow:hidden;--awb-bg-color:var(--awb-color4);--awb-bg-color-hover:var(--awb-color4);--awb-bg-size:cover;--awb-box-shadow:0px 0px 4px 0px var(--awb-color2);;--awb-border-radius:5px 5px 5px 5px;--awb-width-large:100%;--awb-margin-top-large:20px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-7 fusion-sep-none fusion-title-text fusion-title-size-three\" style=\"--awb-text-color:var(--awb-color1);--awb-margin-right:10px;--awb-margin-bottom:10px;--awb-margin-left:15px;--awb-font-size:var(--awb-typography5-font-size);\"><h3 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"font-family:var(--awb-typography5-font-family);font-weight:var(--awb-typography5-font-weight);font-style:var(--awb-typography5-font-style);margin:0;font-size:1em;letter-spacing:var(--awb-typography5-letter-spacing);text-transform:var(--awb-typography5-text-transform);--fontSize:26;--minFontSize:26;line-height:var(--awb-typography5-line-height);\">Wp\u0142yw fizyczny i objawy<\/h3><\/div><div class=\"fusion-separator fusion-full-width-sep\" style=\"align-self: center;margin-left: auto;margin-right: auto;width:100%;\"><div class=\"fusion-separator-border sep-shadow\" style=\"--awb-height:20px;--awb-amount:20px;--awb-sep-color:var(--awb-color1);background:radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-webkit-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-moz-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-o-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);\"><\/div><\/div><div class=\"fusion-builder-row fusion-builder-row-inner fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"width:104% !important;max-width:104% !important;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column_inner fusion-builder-nested-column-5 fusion_builder_column_inner_1_1 1_1 fusion-flex-column\" style=\"--awb-padding-top:15px;--awb-padding-right:15px;--awb-padding-bottom:15px;--awb-padding-left:15px;--awb-bg-color:#f2f2f2;--awb-bg-color-hover:#f2f2f2;--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-10 fusion-text-no-margin\" style=\"--awb-font-size:var(--awb-custom_typography_6-font-size);--awb-line-height:var(--awb-custom_typography_6-line-height);--awb-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-text-transform:var(--awb-custom_typography_6-text-transform);--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-text-font-family:var(--awb-custom_typography_6-font-family);--awb-text-font-weight:var(--awb-custom_typography_6-font-weight);--awb-text-font-style:var(--awb-custom_typography_6-font-style);\"><p>Zrozumienie fizycznego wp\u0142ywu i r\u00f3\u017cnorodnych objaw\u00f3w do\u015bwiadczanych przez osoby \u017cyj\u0105ce z dystrofi\u0105 mi\u0119\u015bniow\u0105 obr\u0119czy ko\u0144czyny dolnej (LGMD).<\/p>\n<\/div><div class=\"accordian fusion-accordian\" style=\"margin-top:10px;margin-bottom:10px;--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-border-size:1px;--awb-icon-size:16px;--awb-content-font-size:var(--awb-custom_typography_6-font-size);--awb-content-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-content-text-transform:var(--awb-custom_typography_6-text-transform);--awb-content-line-height:var(--awb-custom_typography_6-line-height);--awb-icon-alignment:left;--awb-hover-color:var(--awb-color1);--awb-border-color:#e2e2e2;--awb-background-color:#ffffff;--awb-divider-color:#031698;--awb-divider-hover-color:#031698;--awb-icon-color:var(--awb-color4);--awb-title-color:var(--awb-color4);--awb-content-color:#575757;--awb-icon-box-color:#212934;--awb-toggle-hover-accent-color:var(--awb-color3);--awb-toggle-active-accent-color:var(--awb-color3);--awb-title-font-family:var(--awb-custom_typography_2-font-family);--awb-title-font-weight:var(--awb-custom_typography_2-font-weight);--awb-title-font-style:var(--awb-custom_typography_2-font-style);--awb-title-font-size:var(--awb-custom_typography_2-font-size);--awb-title-letter-spacing:var(--awb-custom_typography_2-letter-spacing);--awb-title-line-height:var(--awb-custom_typography_2-line-height);--awb-title-text-transform:var(--awb-custom_typography_2-text-transform);--awb-content-font-family:var(--awb-custom_typography_6-font-family);--awb-content-font-weight:var(--awb-custom_typography_6-font-weight);--awb-content-font-style:var(--awb-custom_typography_6-font-style);\"><div class=\"panel-group fusion-toggle-icon-unboxed\" id=\"accordion-39-6\"><div class=\"fusion-panel panel-default panel-a82889e68fa66f515 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_a82889e68fa66f515\"><a aria-expanded=\"false\" aria-controls=\"a82889e68fa66f515\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#a82889e68fa66f515\" href=\"#a82889e68fa66f515\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Mi\u0119\u015bnie najcz\u0119\u015bciej dotkni\u0119te LGMD to te, kt\u00f3re znajduj\u0105 si\u0119 najbli\u017cej cia\u0142a.<\/span><\/a><\/h5><\/div><div id=\"a82889e68fa66f515\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_a82889e68fa66f515\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Podczas gdy mi\u0119\u015bnie dystalne, te bardziej oddalone od cia\u0142a (takie jak d\u0142onie i stopy) mog\u0105 zosta\u0107 dotkni\u0119te w p\u00f3\u017anych stadiach LGMD, je\u015bli w og\u00f3le. Z czasem osoba z LGMD traci mas\u0119 i si\u0142\u0119 mi\u0119\u015bni.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-060ccd1fce93e0e70 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_060ccd1fce93e0e70\"><a aria-expanded=\"false\" aria-controls=\"060ccd1fce93e0e70\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#060ccd1fce93e0e70\" href=\"#060ccd1fce93e0e70\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyn (LGMD) mo\u017ce wp\u0142ywa\u0107 na serce i mi\u0119\u015bnie niezb\u0119dne do oddychania.<\/span><\/a><\/h5><\/div><div id=\"060ccd1fce93e0e70\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_060ccd1fce93e0e70\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>W niekt\u00f3rych postaciach lub podtypach LGMD mo\u017ce doj\u015b\u0107 do uszkodzenia serca, ale nie zdarza si\u0119 to tak cz\u0119sto, jak w innych postaciach dystrofii mi\u0119\u015bniowej. Problemy z sercem mog\u0105 przybiera\u0107 dwie formy - os\u0142abienie mi\u0119\u015bnia sercowego (kardiomiopatia) i nieprawid\u0142owe przekazywanie sygna\u0142\u00f3w reguluj\u0105cych bicie serca (zaburzenia przewodzenia lub arytmie). Serce powinno by\u0107 monitorowane pod k\u0105tem tych powik\u0142a\u0144. W razie potrzeby do ich leczenia mo\u017cna stosowa\u0107 leki lub urz\u0105dzenia (takie jak rozruszniki serca). Nieprawid\u0142owo\u015bci serca nie s\u0105 zwi\u0105zane ze wszystkimi podtypami LGMD.<\/p>\n<p>W niekt\u00f3rych postaciach lub podtypach LGMD zaanga\u017cowane mog\u0105 by\u0107 r\u00f3wnie\u017c mi\u0119\u015bnie uk\u0142adu oddechowego, co skutkuje trudno\u015bciami w po\u0142ykaniu (dysfagia), niewyra\u017an\u0105 mow\u0105 (dyzartria) i\/lub trudno\u015bciami w oddychaniu. Trudno\u015bci w oddychaniu mog\u0105 si\u0119 stopniowo pogarsza\u0107 wraz z post\u0119pem choroby.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-6205a0060f83bc08d fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_6205a0060f83bc08d\"><a aria-expanded=\"false\" aria-controls=\"6205a0060f83bc08d\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#6205a0060f83bc08d\" href=\"#6205a0060f83bc08d\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyny dolnej (LGMD) wp\u0142ywa g\u0142\u00f3wnie na mi\u0119\u015bnie mimowolne.<\/span><\/a><\/h5><\/div><div id=\"6205a0060f83bc08d\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_6205a0060f83bc08d\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Mi\u0119\u015bnie dobrowolne, znane r\u00f3wnie\u017c jako mi\u0119\u015bnie poprzecznie pr\u0105\u017ckowane, szkieletowe lub pr\u0105\u017ckowane, odnosz\u0105 si\u0119 do mi\u0119\u015bni, kt\u00f3re znajduj\u0105 si\u0119 pod kontrol\u0105 danej osoby i s\u0105 zazwyczaj przymocowane do szkieletu.  Mi\u0119\u015bnie wolicjonalne najcz\u0119\u015bciej dotkni\u0119te LGMD to te najbli\u017cej cia\u0142a (mi\u0119\u015bnie proksymalne)... barki, ramiona, uda i obszar miednicy.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-d95f08401955047fc fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_d95f08401955047fc\"><a aria-expanded=\"false\" aria-controls=\"d95f08401955047fc\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#d95f08401955047fc\" href=\"#d95f08401955047fc\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Mi\u0119\u015bnie mimowolne, z wyj\u0105tkiem serca (kt\u00f3re jest szczeg\u00f3lnym rodzajem mi\u0119\u015bni mimowolnych), nie s\u0105 generalnie dotkni\u0119te dystrofi\u0105 mi\u0119\u015bniow\u0105 obr\u0119czy ko\u0144czyn (LGMD).<\/span><\/a><\/h5><\/div><div id=\"d95f08401955047fc\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_d95f08401955047fc\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Mi\u0119\u015bnie mimowolne to mi\u0119\u015bnie, kt\u00f3re kurcz\u0105 si\u0119 bez \u015bwiadomej kontroli i znajduj\u0105 si\u0119 w \u015bcianach narz\u0105d\u00f3w wewn\u0119trznych, takich jak \u017co\u0142\u0105dek, jelita, p\u0119cherz moczowy i naczynia krwiono\u015bne (z wyj\u0105tkiem serca).<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-41e2f712b4d1a4531 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_41e2f712b4d1a4531\"><a aria-expanded=\"false\" aria-controls=\"41e2f712b4d1a4531\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#41e2f712b4d1a4531\" href=\"#41e2f712b4d1a4531\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Wi\u0119kszo\u015b\u0107 form dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyn (LGMD) nie wp\u0142ywa na m\u00f3zg, intelekt ani zmys\u0142y.<\/span><\/a><\/h5><\/div><div id=\"41e2f712b4d1a4531\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_41e2f712b4d1a4531\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Osoby z LGMD mog\u0105 my\u015ble\u0107, widzie\u0107, s\u0142ysze\u0107 i odczuwa\u0107 doznania tak samo, jak osoby bez dystrofii mi\u0119\u015bniowej.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-edbeb310575a3fe31 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_edbeb310575a3fe31\"><a aria-expanded=\"false\" aria-controls=\"edbeb310575a3fe31\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#edbeb310575a3fe31\" href=\"#edbeb310575a3fe31\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\">W p\u00f3\u017anych stadiach dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny ludzie mog\u0105 do\u015bwiadcza\u0107: Trudno\u015bci z przewracaniem si\u0119 w \u0142\u00f3\u017cku, samodzielnym ubieraniem si\u0119 lub podnoszeniem szklanki, aby wzi\u0105\u0107 \u0142yk napoju.<\/span><\/a><\/h5><\/div><div id=\"edbeb310575a3fe31\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_edbeb310575a3fe31\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>W p\u00f3\u017anych stadiach dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny ludzie mog\u0105 do\u015bwiadcza\u0107:<\/p>\n<ul>\n<li>Trudno\u015bci z przewracaniem si\u0119 w \u0142\u00f3\u017cku<\/li>\n<li>Samodzielne ubieranie si\u0119<\/li>\n<li>Podnoszenie szklanki, aby wzi\u0105\u0107 \u0142yk napoju<\/li>\n<\/ul>\n<p>Wraz z post\u0119pem dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyny dolnej (LGMD), osoby cierpi\u0105ce na t\u0119 chorob\u0119 mog\u0105 do\u015bwiadcza\u0107 powa\u017cniejszych objaw\u00f3w. Objawy te mog\u0105 utrudnia\u0107 wykonywanie codziennych czynno\u015bci i wp\u0142ywa\u0107 na jako\u015b\u0107 \u017cycia danej osoby.<\/p>\n<p>Niekt\u00f3re z p\u00f3\u017anych objaw\u00f3w LGMD mog\u0105 obejmowa\u0107:<\/p>\n<ul>\n<li>Trudno\u015bci w wykonywaniu codziennych czynno\u015bci: Osoby z LGMD mog\u0105 mie\u0107 trudno\u015bci z wykonywaniem podstawowych czynno\u015bci, takich jak k\u0105piel, ubieranie si\u0119 i jedzenie. Mog\u0105 r\u00f3wnie\u017c potrzebowa\u0107 pomocy przy poruszaniu si\u0119 i przenoszeniu z jednej powierzchni na drug\u0105.<\/li>\n<li>Problemy z oddychaniem: LGMD mo\u017ce os\u0142abia\u0107 mi\u0119\u015bnie u\u017cywane do oddychania. Mo\u017ce to prowadzi\u0107 do duszno\u015bci, kaszlu i zapalenia p\u0142uc. W niekt\u00f3rych przypadkach osoby z LGMD mog\u0105 potrzebowa\u0107 respiratora, aby u\u0142atwi\u0107 sobie oddychanie.<\/li>\n<li>Problemy z sercem: LGMD mo\u017ce os\u0142abia\u0107 mi\u0119\u015bnie serca. Mo\u017ce to prowadzi\u0107 do niewydolno\u015bci serca, arytmii i nag\u0142ej \u015bmierci sercowej.<\/li>\n<li>Skolioza: LGMD mo\u017ce os\u0142abia\u0107 mi\u0119\u015bnie podtrzymuj\u0105ce kr\u0119gos\u0142up. Mo\u017ce to prowadzi\u0107 do skoliozy, czyli skrzywienia kr\u0119gos\u0142upa.<\/li>\n<li>Zm\u0119czenie: Osoby z LGMD mog\u0105 odczuwa\u0107 zm\u0119czenie nawet po niewielkim wysi\u0142ku. Mo\u017ce to utrudnia\u0107 wykonywanie czynno\u015bci, kt\u00f3re lubi\u0105.<\/li>\n<\/ul>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-3dfcbfeb8ea72716e fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_3dfcbfeb8ea72716e\"><a aria-expanded=\"false\" aria-controls=\"3dfcbfeb8ea72716e\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#3dfcbfeb8ea72716e\" href=\"#3dfcbfeb8ea72716e\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Przepona jest mi\u0119\u015bniem szkieletowym, kt\u00f3ry ulega uszkodzeniu w niekt\u00f3rych postaciach dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyn.<\/span><\/a><\/h5><\/div><div id=\"3dfcbfeb8ea72716e\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_3dfcbfeb8ea72716e\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Przepona to mi\u0119sie\u0144, kt\u00f3ry pompuje powietrze do i z p\u0142uc. Os\u0142abiona przepona robi to tylko cz\u0119\u015bciowo i nie wyp\u0142ukuje prawid\u0142owo dwutlenku w\u0119gla z p\u0142uc w nocy. Ma to kilka konsekwencji, takich jak bezdech lub p\u0142ytki oddech, kt\u00f3re obni\u017caj\u0105 poziom tlenu i zwi\u0119kszaj\u0105 poziom dwutlenku w\u0119gla we krwi. Podwy\u017cszony poziom dwutlenku w\u0119gla we krwi wi\u0105\u017ce si\u0119 z b\u00f3lami g\u0142owy, dezorientacj\u0105 i senno\u015bci\u0105. Podwy\u017cszony poziom dwutlenku w\u0119gla mo\u017ce r\u00f3wnie\u017c powodowa\u0107 zwi\u0119kszon\u0105 pojemno\u015b\u0107 minutow\u0105 serca, czyli wzrost ci\u015bnienia t\u0119tniczego krwi.<\/p>\n<p>Dzi\u0119ki post\u0119pom w opiece klinicznej i badaniach naukowych istniej\u0105 sposoby radzenia sobie ze skutkami oddechowymi LGMD.<\/p>\n<p>Istniej\u0105 \u015brodki zapobiegawcze i interwencje, kt\u00f3re mog\u0105 pom\u00f3c w utrzymaniu zdrowia uk\u0142adu oddechowego i leczeniu powik\u0142a\u0144 oddechowych. Zapobieganie i odpowiednie leczenie powik\u0142a\u0144 oddechowych ma kluczowe znaczenie dla zapobiegania d\u0142ugotrwa\u0142ym hospitalizacjom, utracie niezale\u017cno\u015bci lub stanom zagra\u017caj\u0105cym \u017cyciu.<\/p>\n<p>Znajomo\u015b\u0107 objaw\u00f3w niewydolno\u015bci oddechowej: cz\u0119stsze zasypianie, ci\u0105g\u0142e zm\u0119czenie, sporadyczna dezorientacja, trudno\u015bci z koncentracj\u0105, drgania mi\u0119\u015bni, kt\u00f3re wcze\u015bniej nie wyst\u0119powa\u0142y, ci\u0105g\u0142e lub okresowe b\u00f3le g\u0142owy, znaczna duszno\u015b\u0107 w spoczynku, trudno\u015bci z zasypianiem lub k\u0142adzeniem si\u0119, utrata przytomno\u015bci lub trudno\u015bci z chodzeniem.<\/p>\n<p>Muscular Dystrophy Canada wyda\u0142a publikacj\u0119 \"Guide to Respiratory Care for Neuromuscular Disorders\", kt\u00f3ra koncentruje si\u0119 na opiece oddechowej dla os\u00f3b dotkni\u0119tych zaburzeniami nerwowo-mi\u0119\u015bniowymi. Publikacja jest dost\u0119pna pod adresem\u00a0<a href=\"http:\/\/muscle.ca\/wp-content\/uploads\/2012\/11\/RC13guide-E.pdf\">on-line.<\/a><\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-aace14e80e3c13801 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_aace14e80e3c13801\"><a aria-expanded=\"false\" aria-controls=\"aace14e80e3c13801\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#aace14e80e3c13801\" href=\"#aace14e80e3c13801\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Osoby z dystrofi\u0105 mi\u0119\u015bniow\u0105 obr\u0119czy ko\u0144czyny dolnej (LGMD) mog\u0105 by\u0107 wra\u017cliwe na zmiany temperatury i cz\u0119sto zmaga\u0107 si\u0119 z zimnem.<\/span><\/a><\/h5><\/div><div id=\"aace14e80e3c13801\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_aace14e80e3c13801\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Utrzymanie ciep\u0142a mo\u017ce by\u0107 wyzwaniem niezale\u017cnie od pogody czy pory roku.  Zimno jest po cz\u0119\u015bci cz\u0119sto zwi\u0105zane ze zmniejszon\u0105 mobilno\u015bci\u0105 i faktem, \u017ce mi\u0119\u015bnie nie kurcz\u0105 si\u0119 tak bardzo, co skutkuje zmniejszonym kr\u0105\u017ceniem krwi.  Nierzadko zdarza si\u0119, \u017ce osoby fizyczne polegaj\u0105 na r\u00f3\u017cnych produktach, kt\u00f3re pomagaj\u0105 im si\u0119 ogrza\u0107, takich jak koce elektryczne, podgrzewana odzie\u017c, ogrzewacze d\u0142oni \/ palc\u00f3w, ok\u0142ady termiczne itp.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-bcd820784f1ff65aa fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_bcd820784f1ff65aa\"><a aria-expanded=\"false\" aria-controls=\"bcd820784f1ff65aa\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#bcd820784f1ff65aa\" href=\"#bcd820784f1ff65aa\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Uwa\u017ca si\u0119, \u017ce mi\u0119\u015bnie szkieletowe i mi\u0119\u015bnie serca s\u0105 jedynymi mi\u0119\u015bniami dotkni\u0119tymi mutacjami genetycznymi powoduj\u0105cymi LGMD.<\/span><\/a><\/h5><\/div><div id=\"bcd820784f1ff65aa\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_bcd820784f1ff65aa\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Mi\u0119\u015bnie szkieletowe to wszystkie mi\u0119\u015bnie zwi\u0105zane z naszymi ko\u015b\u0107mi. S\u0105 one r\u00f3wnie\u017c nazywane mi\u0119\u015bniami \"dobrowolnymi\", co oznacza, \u017ce mo\u017cemy \"kontrolowa\u0107\" ich aktywno\u015b\u0107. Ka\u017cda tkanka w naszym ciele p\u0119k\u0142aby, gdyby by\u0142a rozci\u0105gana i kurczona, tak jak dzieje si\u0119 to z naszymi mi\u0119\u015bniami. Specjalne struktury zosta\u0142y stworzone (w drodze ewolucji), aby stabilizowa\u0107 b\u0142on\u0119 naszych mi\u0119\u015bni i zapobiega\u0107 ich p\u0119kaniu. W LGMD niekt\u00f3re z tych struktur nie istniej\u0105 lub nie s\u0105 w pe\u0142ni funkcjonalne. W konsekwencji mi\u0119\u015bnie w LGMD p\u0119kaj\u0105 i ulegaj\u0105 degeneracji.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-c2c26f2d5aaba1274 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_c2c26f2d5aaba1274\"><a aria-expanded=\"false\" aria-controls=\"c2c26f2d5aaba1274\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#c2c26f2d5aaba1274\" href=\"#c2c26f2d5aaba1274\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Niekt\u00f3re osoby cierpi\u0105ce na dystrofi\u0119 mi\u0119\u015bniow\u0105 ko\u0144czyn dolnych (LGMD) mog\u0105 wydawa\u0107 si\u0119 silniejsze ni\u017c ich r\u00f3wie\u015bnicy w m\u0142odym wieku.<\/span><\/a><\/h5><\/div><div id=\"c2c26f2d5aaba1274\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_c2c26f2d5aaba1274\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Objawy LGMD mog\u0105 pojawi\u0107 si\u0119 w ka\u017cdym wieku... w dzieci\u0144stwie, wieku nastoletnim, doros\u0142ym, a nawet w p\u00f3\u017aniejszym okresie \u017cycia.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-8a68d648dd9b7305f fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_8a68d648dd9b7305f\"><a aria-expanded=\"false\" aria-controls=\"8a68d648dd9b7305f\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-6\" data-target=\"#8a68d648dd9b7305f\" href=\"#8a68d648dd9b7305f\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\">Dystroficzne mi\u0119\u015bnie nie oznaczaj\u0105, \u017ce \u0107wiczenia s\u0105 dla ciebie z\u0142e<\/span><\/a><\/h5><\/div><div id=\"8a68d648dd9b7305f\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_8a68d648dd9b7305f\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Badania kliniczne w niekt\u00f3rych LGMD wykaza\u0142y, \u017ce umiarkowane \u0107wiczenia, w przeciwie\u0144stwie do ekstremalnych \u0107wicze\u0144 lub braku \u0107wicze\u0144, pomagaj\u0105 utrzyma\u0107 si\u0142\u0119 mi\u0119\u015bni, a tym samym jako\u015b\u0107 \u017cycia. Wniosek ten jest zgodny z opiniami os\u00f3b z LGMD. Wyzwaniem by\u0142o zdefiniowanie, co oznacza umiarkowany wysi\u0142ek fizyczny dla os\u00f3b z LGMD.<\/p>\n<p>Niekt\u00f3rzy eksperci zalecaj\u0105 p\u0142ywanie i \u0107wiczenia w wodzie jako dobry spos\u00f3b na utrzymanie mi\u0119\u015bni tak stonowanych, jak to tylko mo\u017cliwe, bez powodowania nadmiernego obci\u0105\u017cenia mi\u0119\u015bni i staw\u00f3w. Niekt\u00f3re kliniki fizykoterapii oferuj\u0105 specjaln\u0105 terapi\u0119 wodn\u0105. Wyporno\u015b\u0107 wody pomaga chroni\u0107 przed niekt\u00f3rymi rodzajami nadwyr\u0119\u017cenia mi\u0119\u015bni i uraz\u00f3w. Przed podj\u0119ciem jakiegokolwiek programu \u0107wicze\u0144 nale\u017cy skontaktowa\u0107 si\u0119 z lekarzem. (I nie p\u0142ywaj sam).<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><div id=\"TREATMENT\" class=\"fusion-container-anchor\"><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-9 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-10 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-overflow:hidden;--awb-bg-color:var(--awb-color4);--awb-bg-color-hover:var(--awb-color4);--awb-bg-size:cover;--awb-box-shadow:0px 0px 4px 0px var(--awb-color2);;--awb-border-radius:5px 5px 5px 5px;--awb-width-large:100%;--awb-margin-top-large:20px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-8 fusion-sep-none fusion-title-text fusion-title-size-three\" style=\"--awb-text-color:var(--awb-color1);--awb-margin-right:10px;--awb-margin-bottom:10px;--awb-margin-left:15px;--awb-font-size:var(--awb-typography5-font-size);\"><h3 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"font-family:var(--awb-typography5-font-family);font-weight:var(--awb-typography5-font-weight);font-style:var(--awb-typography5-font-style);margin:0;font-size:1em;letter-spacing:var(--awb-typography5-letter-spacing);text-transform:var(--awb-typography5-text-transform);--fontSize:26;--minFontSize:26;line-height:var(--awb-typography5-line-height);\">Leczenie i badania<\/h3><\/div><div class=\"fusion-separator fusion-full-width-sep\" style=\"align-self: center;margin-left: auto;margin-right: auto;width:100%;\"><div class=\"fusion-separator-border sep-shadow\" style=\"--awb-height:20px;--awb-amount:20px;--awb-sep-color:var(--awb-color1);background:radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-webkit-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-moz-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);background:-o-radial-gradient(ellipse at 50% -50% , var(--awb-color1) 0px, rgba(255, 255, 255, 0) 80%) repeat scroll 0 0 rgba(0, 0, 0, 0);\"><\/div><\/div><div class=\"fusion-builder-row fusion-builder-row-inner fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"width:104% !important;max-width:104% !important;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column_inner fusion-builder-nested-column-6 fusion_builder_column_inner_1_1 1_1 fusion-flex-column\" style=\"--awb-padding-top:15px;--awb-padding-right:15px;--awb-padding-bottom:15px;--awb-padding-left:15px;--awb-bg-color:#f2f2f2;--awb-bg-color-hover:#f2f2f2;--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-11 fusion-text-no-margin\" style=\"--awb-font-size:var(--awb-custom_typography_6-font-size);--awb-line-height:var(--awb-custom_typography_6-line-height);--awb-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-text-transform:var(--awb-custom_typography_6-text-transform);--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-text-font-family:var(--awb-custom_typography_6-font-family);--awb-text-font-weight:var(--awb-custom_typography_6-font-weight);--awb-text-font-style:var(--awb-custom_typography_6-font-style);\"><p>Aktualne informacje na temat leczenia i bada\u0144 LGMD, daj\u0105ce nadziej\u0119 osobom dotkni\u0119tym dystrofi\u0105 mi\u0119\u015bniow\u0105 obr\u0119czy ko\u0144czyny (LGMD).<\/p>\n<\/div><div class=\"accordian fusion-accordian\" style=\"margin-top:10px;margin-bottom:10px;--awb-margin-top:10px;--awb-margin-bottom:10px;--awb-border-size:1px;--awb-icon-size:16px;--awb-content-font-size:var(--awb-custom_typography_6-font-size);--awb-content-letter-spacing:var(--awb-custom_typography_6-letter-spacing);--awb-content-text-transform:var(--awb-custom_typography_6-text-transform);--awb-content-line-height:var(--awb-custom_typography_6-line-height);--awb-icon-alignment:left;--awb-hover-color:var(--awb-color1);--awb-border-color:#e2e2e2;--awb-background-color:#ffffff;--awb-divider-color:#031698;--awb-divider-hover-color:#031698;--awb-icon-color:var(--awb-color4);--awb-title-color:var(--awb-color4);--awb-content-color:#575757;--awb-icon-box-color:#212934;--awb-toggle-hover-accent-color:var(--awb-color3);--awb-toggle-active-accent-color:var(--awb-color3);--awb-title-font-family:var(--awb-custom_typography_2-font-family);--awb-title-font-weight:var(--awb-custom_typography_2-font-weight);--awb-title-font-style:var(--awb-custom_typography_2-font-style);--awb-title-font-size:var(--awb-custom_typography_2-font-size);--awb-title-letter-spacing:var(--awb-custom_typography_2-letter-spacing);--awb-title-line-height:var(--awb-custom_typography_2-line-height);--awb-title-text-transform:var(--awb-custom_typography_2-text-transform);--awb-content-font-family:var(--awb-custom_typography_6-font-family);--awb-content-font-weight:var(--awb-custom_typography_6-font-weight);--awb-content-font-style:var(--awb-custom_typography_6-font-style);\"><div class=\"panel-group fusion-toggle-icon-unboxed\" id=\"accordion-39-7\"><div class=\"fusion-panel panel-default panel-52f59ef6cd9e6397e fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_52f59ef6cd9e6397e\"><a aria-expanded=\"false\" aria-controls=\"52f59ef6cd9e6397e\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-7\" data-target=\"#52f59ef6cd9e6397e\" href=\"#52f59ef6cd9e6397e\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Obecnie nie istniej\u0105 \u017cadne leki ani metody leczenia dystrofii mi\u0119\u015bniowej obr\u0119czy ko\u0144czyn (LGMD).<\/span><\/a><\/h5><\/div><div id=\"52f59ef6cd9e6397e\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_52f59ef6cd9e6397e\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chocia\u017c obiecuj\u0105ce badania trwaj\u0105!<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-84bd6e9037051017c fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_84bd6e9037051017c\"><a aria-expanded=\"false\" aria-controls=\"84bd6e9037051017c\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-7\" data-target=\"#84bd6e9037051017c\" href=\"#84bd6e9037051017c\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Dystrofia mi\u0119\u015bniowa obr\u0119czy ko\u0144czyny dolnej (LGMD) jest klasyfikowana jako choroba sieroca, w zwi\u0105zku z czym brakuje jej funduszy na badania.<\/span><\/a><\/h5><\/div><div id=\"84bd6e9037051017c\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_84bd6e9037051017c\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Choroba sieroca jest definiowana jako schorzenie, kt\u00f3re dotyka mniej ni\u017c 200 000 os\u00f3b w ca\u0142ym kraju.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default panel-881e65c2eade48807 fusion-toggle-no-divider fusion-toggle-boxed-mode\" style=\"--awb-title-color:var(--awb-color4);\"><div class=\"panel-heading\"><h5 class=\"panel-title toggle\" id=\"toggle_881e65c2eade48807\"><a aria-expanded=\"false\" aria-controls=\"881e65c2eade48807\" role=\"button\" data-toggle=\"collapse\" data-parent=\"#accordion-39-7\" data-target=\"#881e65c2eade48807\" href=\"#881e65c2eade48807\"><span class=\"fusion-toggle-icon-wrapper\" aria-hidden=\"true\"><i class=\"fa-fusion-box active-icon awb-icon-minus\" aria-hidden=\"true\"><\/i><i class=\"fa-fusion-box inactive-icon awb-icon-plus\" aria-hidden=\"true\"><\/i><\/span><span class=\"fusion-toggle-heading\"> Co roku 30 wrze\u015bnia na ca\u0142ym \u015bwiecie obchodzony jest Dzie\u0144 \u015awiadomo\u015bci Dystrofii Mi\u0119\u015bniowej Ko\u0144czyn.<\/span><\/a><\/h5><\/div><div id=\"881e65c2eade48807\" class=\"panel-collapse collapse\" aria-labelledby=\"toggle_881e65c2eade48807\"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Naszym zamiarem jest, aby Dzie\u0144 \u015awiadomo\u015bci Dystrofii Mi\u0119\u015bniowej Ko\u0144czyn by\u0142 obchodzony i uznawany na ca\u0142ym \u015bwiecie. Nie b\u0119dzie to jedno wydarzenie, ale zamiast tego zach\u0119camy ludzi w wielu cz\u0119\u015bciach \u015bwiata do zorganizowania dzia\u0142a\u0144 upami\u0119tniaj\u0105cych ten dzie\u0144, zgodnie z ich zwyczajami i praktykami.<\/p>\n<p>Aby uzyska\u0107 wi\u0119cej informacji na temat Dnia \u015awiadomo\u015bci LGMD, odwied\u017a nasz\u0105 stron\u0119 internetow\u0105<a href=\"\/pl\/awareness-day\/\"> Sekcja Dzie\u0144 \u015bwiadomo\u015bci<\/a>.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/p>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":6498,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-39","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>What is LGMD - LGMD Awareness Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.lgmd-info.org\/pl\/knowledge-base\/all-about-lgmd\/what-is-lgmd\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"What is LGMD - LGMD Awareness Foundation\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.lgmd-info.org\/pl\/knowledge-base\/all-about-lgmd\/what-is-lgmd\/\" \/>\n<meta property=\"og:site_name\" content=\"LGMD Awareness Foundation\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/LGMDawareness\/\" \/>\n<meta property=\"article:modified_time\" content=\"2023-10-18T18:16:50+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2021\/06\/LGMD-Logo_1200X630.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1200\" \/>\n\t<meta property=\"og:image:height\" content=\"630\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@LgmdAwareness\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"9 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.lgmd-info.org\/zh\/knowledge-base\/all-about-lgmd\/what-is-lgmd\/\",\"url\":\"https:\/\/www.lgmd-info.org\/zh\/knowledge-base\/all-about-lgmd\/what-is-lgmd\/\",\"name\":\"What is LGMD - 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