{"id":4719,"date":"2021-03-15T21:28:12","date_gmt":"2021-03-15T21:28:12","guid":{"rendered":"https:\/\/www.lgmd-info.org\/?page_id=4719"},"modified":"2025-01-23T17:08:59","modified_gmt":"2025-01-23T17:08:59","slug":"glossary","status":"publish","type":"page","link":"https:\/\/www.lgmd-info.org\/pl\/knowledge-base\/all-about-lgmd\/glossary\/","title":{"rendered":"S\u0142owniczek"},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container hundred-percent-fullwidth non-hundred-percent-height-scrolling fusion-sticky-container\" 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-padding-right-small:0px;--awb-padding-left-small:0px;--awb-flex-wrap:wrap;\" data-transition-offset=\"0\" data-scroll-offset=\"0\" data-sticky-small-visibility=\"1\" data-sticky-medium-visibility=\"1\" data-sticky-large-visibility=\"1\" ><div class=\"fusion-builder-row 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 fusion-builder-column-0 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-color:#e8e8e8;--awb-bg-color-hover:#e8e8e8;--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-1\"><p><strong>S\u0142owniczek<\/strong><\/p>\n<\/div><script>\njQuery(document).ready(function( $ ) {\n   $(\"#myInput\").on(\"keyup\", function() {\n    var value = $(this).val().toLowerCase();\n    $(\"#glossary tr\").filter(function() {\n      $(this).toggle($(this).text().toLowerCase().indexOf(value) > -1)\n    });\n  });\n  });\n<\/script>\n\n<input id=\"myInput\" type=\"text\" placeholder=\"Szukaj...\"><\/div><\/div><\/div><\/div><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-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: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\">\n<div class=\"table-1\">\n<table id=\"glossary\" style=\"width: 100%;\" border=\"1\">\n<tbody>\n<tr>\n<td>\n<h2>Aktywne \u0107wiczenia<\/h2>\n<p>\u0106wiczenia, kt\u00f3re dana osoba wykonuje przy u\u017cyciu w\u0142asnej si\u0142y (patrz \u0107wiczenia bierne).<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Codzienne czynno\u015bci \u017cyciowe (ADL)<\/h2>\n<p>Refers to the activities we normally do in daily routine including any daily activity we perform for self-care such as feeding ourselves, bathing, dressing, toileting, grooming, work, homemaking, parenting responsibilities and leisure. The ability or inability to perform ADLs can be used as a very practical measure of ability\/disability in many disorders.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Fizykoterapia w wodzie \/ hydroterapia<\/h2>\n<p>The evidence-based and skilled practice of physical therapy in an aquatic environment by a physical therapist involving activity performed in water to assist in rehabilitation. It is a form of exercise in a warm pool and refers to treatments and exercises performed in a warm water pool for relaxation, fitness, physical rehabilitation, and other therapeutic benefit. This is a popular treatment for patients with neurologic and musculoskeletal conditions.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Gazometria krwi t\u0119tniczej - (ABG)<\/h2>\n<p>is a test of blood from an artery and measures the amounts of certain gases (such as oxygen and carbon dioxide) that are in arterial blood. The results of this test give clues about how well your lungs, heart, and kidneys are working. An ABG test involves puncturing an artery with a thin needle and syringe and drawing a small volume of blood.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Aspiracja<\/h2>\n<p>The drawing of a foreign substance, such as mucus or food, into the respiratory tract during inhalation.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wentylacja wspomagana<\/h2>\n<p>Patrz wentylacja mechaniczna<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Atrofia<\/h2>\n<p>Zanik mi\u0119\u015bni.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Zaburzenia autoimmunologiczne<\/h2>\n<p>Conditions in which the immune system produces antibodies that attack the body\u2019s own cells, for example: Crohn\u2019s Disease, dermatomyositis, polymyositis, and myasthenia gravis. LGMD is not an autoimmune disease.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dziedziczenie autosomalne<\/h2>\n<p>Wz\u00f3r dziedziczenia, kt\u00f3ry w r\u00f3wnym stopniu dotyka zar\u00f3wno m\u0119\u017cczyzn, jak i kobiety. Nieprawid\u0142owy gen nie znajduje si\u0119 na chromosomach X lub Y (zwanych chromosomami p\u0142ci).<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wentylacja AVAP<\/h2>\n<p>Average volume-assured pressure support. It is a form of non-invasive positive pressure ventilation that adjusts the pressure support (PS) to maintain a target average ventilation over several breaths.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Biopsja<\/h2>\n<p>Usuni\u0119cie niewielkiej ilo\u015bci tkanki do badania.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wentylacja BPAP (lub BiPAP)<\/h2>\n<p>Bilevel positive airway pressure. A type of noninvasive ventilation that helps with breathing by providing a flow of air delivered through a face mask. The air is pressurized by a machine, which delivers it to the face mask through long, plastic tubing. The machine delivers the air at two different pressures which alternate: A higher pressure to breathe in (called inspiratory positive airway pressure, or IPAP) and a lower pressure for breathing out (called expiratory positive airway pressure, or EPAP).<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Cytrynian wapnia<\/h2>\n<p>This is a type of calcium and is often recommended by many neurologists for those with muscular dystrophy to prevent osteoporosis.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Kalpainopatia<\/h2>\n<p>A group of limb-girdle muscular dystrophies (LGMD) caused by mutations in the CAPN3 gene. LGMD2A\/LGMD R1 calpain3-related is the more common form of Calpainopathy and has an autosomal recessive inheritance pattern, whereas LGMD 1i\/LGMD D4 calpain3-related is the form with an autosomal dominant inheritance pattern.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Kapnograf<\/h2>\n<p>also known as capnometer; a monitoring device that painlessly measures the concentration of carbon dioxide in exhaled air (end tidal CO2)<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dwutlenek w\u0119gla (CO2)<\/h2>\n<p>What is exhaled in breathing. In some forms of MD, CO2 is retained, which means that an individual is not breathing out the CO2 or not inhaling enough air due to weakened breathing muscles.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Serce<\/h2>\n<p>Zwi\u0105zane z sercem.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Kardiolodzy<\/h2>\n<p>Doctors who specialize in preventing, diagnosing, and treating diseases of the heart and blood vessels.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Kardiomiopatia<\/h2>\n<p>Refers to diseases of the heart muscle. In cardiomyopathy, the heart muscle becomes enlarged, thick, or rigid, and in some cases, the muscle tissue in the heart is replaced with scar tissue. As the disease gets worse, the heart becomes weaker and less able to pump blood through the body, which can lead to heart failure or arrhythmias.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Przewo\u017anik<\/h2>\n<p>An individual who has inherited a genetic mutation but does not have any symptoms. They have one normal and one abnormal copy of a pair of genes which cause a genetic disorder. A carrier will usually remain unaffected throughout his or her life but may pass the faulty gene on to their children.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Chromosomy<\/h2>\n<p>DNA is packaged in tiny units called chromosomes. Each chromosome contains a single long and tightly packed piece of DNA with many different genes. Every human cell contains 23 pairs of chromosomes, and each pair contains one chromosome from each parent.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Badania i pr\u00f3by kliniczne<\/h2>\n<p>Clinical studies and trials involve research using human volunteers (also called participants) that is intended to add to medical knowledge. Developing new medicines and treatments is a lengthy and complex process, relying heavily on volunteer participation to help with better understanding of the disease process as well as to evaluate potential therapies for safety and effectiveness in clinical trials. Clinical trials are conducted in a series of steps, called phases \u2013 each phase is designed to answer a separate research question.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wrodzony<\/h2>\n<p>Je\u015bli cecha lub charakterystyka jest wrodzona, oznacza to, \u017ce jest obecna przy urodzeniu.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Przykurcz<\/h2>\n<p>An abnormal, often permanent contraction or shortening of the muscle (or tendon) that causes the joints to shorten and become very stiff. This prevents normal movement of a joint or other bodypart. Stretching helps to prevent this issue but still can occur. In some instances, surgery is required to release a contracture.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>CoughAssist<\/h2>\n<p>A trademarked device by Philips Respironics that uses positive airway pressure that rapidly reverses to negative pressure to assist an individual\u2019s cough; sometimes called a cough stimulating device or device for cough augmentation<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>CPAP, czyli ci\u0105g\u0142e dodatnie ci\u015bnienie w drogach oddechowych<\/h2>\n<p>A treatment that uses mild air pressure to keep the airways open. CPAP typically is used by people who have breathing problems, such as sleep apnea. CPAP is no longer recommended for use in neuromuscular disease patients as it provides one continuous pressure of air for both inhaling and exhaling. As such, it can be uncomfortable for weakened breathing muscles and does not assist with ventilation (moving air into and out of the lungs) for those with weak inspiratory muscles.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Kinaza kreatynowa (CK)<\/h2>\n<p>A type of protein found in muscle. Some forms of muscular dystrophy are associated with high levels of creatine kinase in a blood test because when muscles are damaged due to disease or injury, the creatine kinase leaks into the bloodstream.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Kryteria diagnostyczne<\/h2>\n<p>Guidelines, rules or characteristics used by a clinician to diagnose somebody with a particular condition.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Membrana<\/h2>\n<p>The primary muscle of breathing that stretches across the area between your chest and waist to support your lungs. This is often the area that becomes weak and leads to respiratory issues in MD.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dystalny<\/h2>\n<p>Odnosi si\u0119 do bycia z dala od centrum cia\u0142a, na przyk\u0142ad d\u0142oni i st\u00f3p.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Miopatie dystalne<\/h2>\n<p>A group of conditions predominantly affecting the muscles farthest away from the center of the body, for example the hands and feet.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>DNA lub kwas dezoksyrybonukleinowy<\/h2>\n<p>A long molecule that contains our unique genetic code. Like a recipe book it holds the instructions for making all the proteins in our bodies.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dziedziczenie dominuj\u0105ce<\/h2>\n<p>A method of genetic inheritance, whereby a single abnormal copy of a gene causes disease, even though a good copy of the gene is also present. We inherit one copy of each gene from our mother and one from our father. Individuals with a dominant condition have a 50% chance of passing on the altered gene, and resulting disease, to their children.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Trwa\u0142y sprz\u0119t medyczny (DME)<\/h2>\n<p>Any medical equipment that provides therapeutic benefits to a patient in need because of certain medical conditions and\/or illnesses. Examples may include wheelchairs, scooters, bath benches, grab bars, patient lifts and other disability related equipment.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dysfagia<\/h2>\n<p>Trudno\u015bci w po\u0142ykaniu.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dystroglikanopatie<\/h2>\n<p>A group of limb girdle muscular dystrophies (LGMD) caused by mutations in each dystroglycan-related gene. Each type of dystroglycanopathy is genetically different but people have similar symptoms.These include LGMD 2I\/LGMD R9 dystroglycan-related (FKRP), LGMD 2K\/LGMD R11 dystroglycan-related (POMT1), LGMD 2M\/LGMD R13 dystroglycan-related (FKTN), LGMD 2N\/LGMD R14 dystroglycan-related(POMT2), LGMD 2O\/R15 dystroglycan-related (POMGnT1), and LGMD 2P\/R16 dystroglycan-related (DAG1).<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dystroficzny<\/h2>\n<p>Relating to or afflicted with dystrophy. Muscles affected by muscular dystrophy may be described as dystrophic.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dystrofia<\/h2>\n<p>The word originates from two Greek words, \u2018dys\u2019 (\u2018faulty\u2019) and \u2018trophe\u2019 (\u2018nourishment\u2019). Muscular dystrophy refers to a group of disorders characterized by progressive muscle weakness and loss of muscle tissue.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dysferlinopatia<\/h2>\n<p>A muscular dystrophy that is caused by mutations in the dysferlin gene regardless of the clinical presentation.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Echokardiogram<\/h2>\n<p>Wykorzystanie ultrad\u017awi\u0119k\u00f3w do tworzenia obraz\u00f3w serca.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Frakcja wyrzutowa<\/h2>\n<p>This is a measurement in the heart to see how well the heart muscle squeezes. When a patient has an echocardiogram, a result below 50% is indicative of a weak heart muscle. The term \u201cejection fraction\u201d refers to the percentage of blood that is pumped out of a filled ventricle with each heartbeat. The left ventricle is the heart\u2019s main pumping chamber, so ejection fraction is usually measured only in the left ventricle (LV). An LV ejection fraction of 55 percent or higher is considered normal. An LV ejection fraction of 50 percent or lower is considered reduced. Experts vary in their opinion about an ejection fraction between 50 and 55 percent, and some would consider this a \u201cborderline\u201d range.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Elektrokardiografia (EKG)<\/h2>\n<p>A test which records the electrical activity of the heart through electrodes attached to the skin. In some neuromuscular disorders, you can observe issues with heart electrical issues.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Elektromiografia (EMG)<\/h2>\n<p>A test that assesses the electrical activity of the muscles and the nerves controlling the muscles.It is used to help diagnose neuromuscular disorders. There are two kinds of EMG in widespread use:intramuscular (needle) and surface EMG. To perform intramuscular EMG, a needle electrode or a needle containing two fine-wire electrodes is inserted through the skin into the muscle tissue.Intramuscular EMG may be considered too invasive or unnecessary in some cases and an electrode placed on the surface of the skin is used.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wentylacja EPAP<\/h2>\n<p>Expiratory positive airway pressure. The pressure we exhale against with a bi-level ventilation device or as part of a bi-level mode of ventilation on a ventilator.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Zm\u0119czenie<\/h2>\n<p>Ogromne zm\u0119czenie spowodowane zw\u0142aszcza ci\u0119\u017ck\u0105 prac\u0105 lub wysi\u0142kiem.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wymuszona pojemno\u015b\u0107 \u017cyciowa (FVC)<\/h2>\n<p>Refers to the amount of air one can exhale after inhaling as completely as possible. This is the value that is often measured by doctors and can be lower for MD patients. Restrictive lung disease is often used as a term in those with MD who have reduced FVC. However, the lungs are healthy and breathing issues result from weak muscles that interfere with inhalation and exhalation, so it is important to note that the lungs themselves are healthy.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wymuszona pojemno\u015b\u0107 \u017cyciowa (FVC)<\/h2>\n<p>Refers to the amount of air one can exhale after inhaling as completely as possible. This is the value that is often measured by doctors and can be lower for MD patients. Restrictive lung disease is often used as a term in those with MD who have reduced FVC. However, the lungs are healthy and breathing issues result from weak muscles that interfere with inhalation and exhalation, so it is important to note that the lungs themselves are healthy.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Gen<\/h2>\n<p>Gen jest podstawow\u0105 fizyczn\u0105 i funkcjonaln\u0105 jednostk\u0105 dziedziczno\u015bci. Geny sk\u0142adaj\u0105 si\u0119 z DNA.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Mutacja genu<\/h2>\n<p>A gene mutation (also called a gene variant) is an alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Terapia genowa<\/h2>\n<p>A technique that uses genes to treat disease. This is often done by introducing a new gene into a cell. The new gene may be used to replace a gene that is rendered inactive due to a mutation.Viruses are often used to deliver the new gene into the cells.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Doradztwo genetyczne<\/h2>\n<p>Information and support provided by a specialist such as a genetic counselor, a doctor, or a nurse, to people who have genetic conditions in their families, or are concerned about a genetically transmitted condition. Genetic counseling can provide guidance when a person with a genetic disease or a carrier of a genetic disease is planning for pregnancy.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Zaburzenia genetyczne<\/h2>\n<p>Conditions or diseases that are determined by the genes or chromosomes are referred to as genetic disorders.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Testy genetyczne<\/h2>\n<p>A type of medical test that identifies changes in chromosomes, genes, or proteins through a blood or saliva sample. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person\u2019s chance of developing or passing on a genetic disorder.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Genom<\/h2>\n<p>A genome is an organism\u2019s complete set of genetic instructions. Each genome contains all the information needed to build that organism and allow it to grow and develop.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Hiperkapnia<\/h2>\n<p>Wysoki poziom dwutlenku w\u0119gla we krwi; cz\u0119sto spowodowany nieodpowiedni\u0105 wentylacj\u0105.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Hipopnea<\/h2>\n<p>P\u0142ytki oddech.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Hipotonia<\/h2>\n<p>Refers to decreased muscle tone, which can indicate a health problem or disorder, including congenital muscular dystrophy. Infants with hypotonia can seem floppy and like a rag doll.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Hipoksemia<\/h2>\n<p>Nieprawid\u0142owo niski poziom tlenu we krwi.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dziedziczenie<\/h2>\n<p>Proces, w kt\u00f3rym jednostka nabywa cechy od swoich rodzic\u00f3w lub przodk\u00f3w.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wentylacja inwazyjna<\/h2>\n<p>Refers to ventilation delivered via tubing from a ventilator through a tracheostomy, a surgically inserted hole in the windpipe (trachea).<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Mi\u0119\u015bnie mimowolne<\/h2>\n<p>Involuntary muscles are the muscles that cannot be controlled by will or conscious and are often associated with organs that exhibit slow and regular contractions and relaxation. These muscles are mostly found lining the walls of internal organs like the stomach, intestine, urinary bladder, and blood capillaries.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dystrofia mi\u0119\u015bniowa ko\u0144czyn dolnych (LGMD)<\/h2>\n<p>A term used for a GROUP of rare neuromuscular conditions which are inherited and known to cause progressive muscle weakness &amp; wasting. There are more than 30 different forms of LGMD (called subtypes) and all cause weakness of the \u2019limb-girdle\u2019 muscles \u2014 the muscles surrounding the shoulders and hips. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Lordoza<\/h2>\n<p>This term describes the inward curve of the lumbar spine just above the buttocks. A small degree of lordosis is normal, but too much curving of the lumbar spine, called swayback, can cause lower back pain. Swayback can occur in some types of muscular dystrophy, such as limb girdle muscular dystrophy.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Obrazowanie metod\u0105 rezonansu magnetycznego (MRI)<\/h2>\n<p>A non-invasive body imaging procedure that uses powerful magnets and radio waves to construct pictures of the internal structures of the body.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wentylacja mechaniczna (zwana r\u00f3wnie\u017c wspomaganiem wentylacji lub wentylacj\u0105 wspomagan\u0105)<\/h2>\n<p>The medical procedure used to aid or replace breathing when a patient is unable to breathe adequately themselves. Devices prescribed for those living with neuromuscular disorders to assist with their ventilation (moving air into and out of the lungs) include bi-level devices (i.e., BiPAP) and portable ventilators. It includes the use of equipment that supports ventilation by means of volume or positive pressure, either invasively (tracheostomy) or non-invasively (masks, nasal pillows, and mouthpieces).<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Biopsja mi\u0119\u015bni<\/h2>\n<p>Usuni\u0119cie niewielkiej ilo\u015bci tkanki mi\u0119\u015bniowej do badania.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>W\u0142\u00f3kno mi\u0119\u015bniowe<\/h2>\n<p>The basic unit of muscle tissue, also called a muscle cell. Individual muscles are made up of hundreds or thousands of muscle fibers that are bundled together.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Miopatia<\/h2>\n<p>Ka\u017cda choroba mi\u0119\u015bni, kt\u00f3ra nie jest spowodowana dysfunkcj\u0105 nerw\u00f3w.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Miopatia<\/h2>\n<p>Stan wp\u0142ywaj\u0105cy na mi\u0119\u015bnie, zwykle bez zaanga\u017cowania nerw\u00f3w.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Zapalenie mi\u0119\u015bni<\/h2>\n<p>Zapalenie mi\u0119\u015bni.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Miotonia<\/h2>\n<p>Stan, w kt\u00f3rym mi\u0119\u015bnie powoli rozlu\u017aniaj\u0105 si\u0119 po skurczu (sztywno\u015b\u0107 mi\u0119\u015bni).<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Badanie historii naturalnej<\/h2>\n<p>A study that follows a group of people over time who have, or are at risk of developing, a specific medical condition or disease. A natural history study collects health information to understand how the medical condition or disease develops and how to treat it.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Neurolodzy<\/h2>\n<p>Doctors who specialize in diseases and disorders of the brain and nervous system. Even though muscular dystrophy is a muscle disease, a neurologist is often the specialist who coordinates the care of a person with muscular dystrophy, both providing treatment, and referring the person to any number of specialists and sub specialists, as needed.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Zaburzenia nerwowo-mi\u0119\u015bniowe (NMD)<\/h2>\n<p>A wide range of diseases affecting the nerves and muscles of the body, often leading to progressive muscle weakness.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Neuropatia<\/h2>\n<p>A medical term describing disorders of the nerves which carry signals to and from the muscles in the legs and arms. These nerves are known as the peripheral nerves.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Nomenklatura<\/h2>\n<p>Refers to a naming system. With LGMD, the different subtypes are identified by the gene mutation causing the condition and by the autosomal inheritance pattern of that subtype (dominant or recessive).<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Nieinwazyjna wentylacja mechaniczna (NIV)<\/h2>\n<p>Refers to the administration of ventilatory (breathing) support without using an invasive artificial airway (endotracheal tube or tracheostomy tube). Non-invasive ventilation does not require asurgical procedure. Individuals use a mask (i.e., full face, nasal, or nasal pillows) or other typeof mouthpiece interface (i.e., angled mouthpieces or straw) that can be wheelchair-connected via gooseneck tubing to deliver air from a bi-level device (BiPAP) or portable ventilator to ventilate the lungs (move air into and out of them).<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Choroba sieroca<\/h2>\n<p>Patrz rzadka choroba.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Ortopedzi<\/h2>\n<p>Doctors who specialize in the bones and joints and the muscles, tendons, and ligaments attached to the bones.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wk\u0142adki ortopedyczne<\/h2>\n<p>Odnosi si\u0119 do urz\u0105dze\u0144 wspomagaj\u0105cych, takich jak aparaty ortopedyczne i szyny.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Testy panelowe<\/h2>\n<p>The selection of genes to be sequenced together in one genetic test. For example, many neurologists will select a neuromuscular panel test when testing to determine which LGMD subtype a person might have. NGS became widely used around 2014. Prior to that, a genetic sequencing technique called Sangar sequencing was used and genes were sequenced one at a time.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>\u0106wiczenie pasywne<\/h2>\n<p>\u0106wiczenie wykonywane przez osob\u0119, w kt\u00f3rym ca\u0142y ruch wykonywany jest przez inn\u0105 osob\u0119 lub maszyn\u0119.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Mutacja patogenna<\/h2>\n<p>Mutacja genu (zwana r\u00f3wnie\u017c wariantem genu), kt\u00f3ra przyczynia si\u0119 do rozwoju choroby.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Rejestr pacjent\u00f3w<\/h2>\n<p>A collection of secondary data related to patients with a specific diagnosis or condition. They play an important role in advancing research and post marketing surveillance of pharmaceuticals.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Zapalenie p\u0142uc<\/h2>\n<p>A condition where the lung tissue becomes inflamed and filled with fluid. This can be caused by infection or injury to the lungs, and causes symptoms of coughing, chest pain, and difficulty inbreathing. In people with reduced coughing reflexes due to a reduced forced vital capacity, pneumonia is a risk. It is important to use a Cough Assist during illness to clear secretions if necessary.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Proksymalny<\/h2>\n<p>Blisko \u015brodka cia\u0142a.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Ptoza<\/h2>\n<p>Opadaj\u0105ce powieki.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>P\u0142ucny<\/h2>\n<p>Anything that affects, occurs within, or relates to the lungs. Clinicians measure pulmonary function, or lung function to assess how well a patient can breathe.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Testy czynno\u015bciowe p\u0142uc - (PFT)<\/h2>\n<p>A test that is designed to measure how well the lungs are working; PFTs gauge how the lungs are expanding and contracting (when a person inhales and exhales) and measure the efficiency of the exchange of oxygen and carbon dioxide between the blood and the air within the lungs. The results give your health-care team detailed information about your respiratory system, and they may point out its potential weaknesses.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Pulmonolodzy<\/h2>\n<p>Lekarze specjalizuj\u0105cy si\u0119 w zaburzeniach p\u0142uc i struktur zwi\u0105zanych z p\u0142ucami, takich jak mi\u0119\u015bnie kontroluj\u0105ce oddychanie.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Pulsoksymetr<\/h2>\n<p>A device that measures the oxygen saturation of arterial blood by utilizing a sensor attached typically to a finger, toe, or ear to determine the percentage of oxyhemoglobin in blood.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Fizjoterapeuci (lekarze rehabilitacji)<\/h2>\n<p>Lekarze specjalizuj\u0105cy si\u0119 w tak zwanej \"medycynie fizycznej i rehabilitacji\".<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Psychiatrzy<\/h2>\n<p>Lekarze specjalizuj\u0105cy si\u0119 w zdrowiu psychicznym i kwestiach emocjonalnych.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>\u0106wiczenia zakresu ruchu (ROM)<\/h2>\n<p>Exercise that involves putting a joint through its normal range of motion (as far as it can go in any direction); can be done actively or passively.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Rzadka choroba<\/h2>\n<p>Rare diseases are diseases which affect a small number of people compared to the general population and specific issues are raised in relation to their rarity. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US. In Europe, a disease is rare when it affects 1 person per 2000. Rare diseases became known as orphan diseases because drug companies historically were not interested in adopting them to develop treatments. All limb girdle muscular dystrophy subtypes are rare diseases.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dziedziczenie recesywne<\/h2>\n<p>A form of inheritance in which a faulty copy of a gene is inherited from each parent (to develop the disorder an individual must have two copies of the faulty gene). Includes X-linked recessive and autosomal recessive modes of inheritance.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Niewydolno\u015b\u0107 oddechowa<\/h2>\n<p>Stan, w kt\u00f3rym czynno\u015b\u0107 uk\u0142adu oddechowego jest niewystarczaj\u0105ca do zaspokojenia potrzeb organizmu.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Niewydolno\u015b\u0107 oddechowa zwi\u0105zana z os\u0142abieniem mi\u0119\u015bni<\/h2>\n<p>Niewydolno\u015b\u0107 oddechowa wynikaj\u0105ca z os\u0142abienia mi\u0119\u015bni i zazwyczaj nie jest chorob\u0105 tkanki p\u0142ucnej.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Restrykcyjna choroba p\u0142uc<\/h2>\n<p>Refers to chronic lung conditions that limit the ability of a person\u2019s lungs to expand during inhalation.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Rabdomioliza<\/h2>\n<p>A breakdown of muscle tissue that releases a damaging protein (myoglobin) into the blood. Symptoms include dark, reddish urine, a decreased amount of urine, weakness, and muscle aches. Myoglobin can damage the kidneys. Early treatment with aggressive fluid replacement reduces the risk of kidney damage.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Sarkoglikanopatie<\/h2>\n<p>Sarcoglycanopothies are a group of limb-girdle muscular dystrophies (LGMD) caused by faults in one of the four genes which give instructions to produce four proteins (sarcoglycans) important to the muscle fibers. Each type of sarcoglycanopathy is genetically different but people have similar symptoms. These include LGMD 2C\/ LGMD R5 Gamma-sarcoglycan-related; LGMD 2D\/LGMD R3Alpha-sarcoglycan-related; LGMD 2E\/LGMD R4 Beta-sarcoglycan-related; and LGMD 2F\/LGMD R6Delta-sarcoglycan-related.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Sarkolemma<\/h2>\n<p>B\u0142ona lub sk\u00f3ra otaczaj\u0105ca ka\u017cde w\u0142\u00f3kno mi\u0119\u015bniowe.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Skrzyd\u0142o szkaplerza<\/h2>\n<p>Involves one or both shoulder blades sticking out from the back rather than lying flat and can occur in some forms of LGMD due to the wasting of specific muscle groups around the scapulae.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Skolioza<\/h2>\n<p>Nieprawid\u0142owe boczne skrzywienie kr\u0119gos\u0142upa.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Mi\u0119\u015bnie szkieletowe<\/h2>\n<p>Skeletal muscles are all the muscles that are attached to our bones. They are also called \u201cvoluntary\u201dmuscles, which means we can \u201ccontrol\u201d their activity. These muscles are used to create movement, by applying force to bones and joints, via contraction. Other types of muscle include cardiac (heart)and smooth (blood vessels, stomach, intestines) muscle.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Spirometria<\/h2>\n<p>(co oznacza pomiar oddechu) jest najcz\u0119stszym z test\u00f3w czynno\u015bci p\u0142uc (PFT), mierz\u0105cym czynno\u015b\u0107 p\u0142uc, w szczeg\u00f3lno\u015bci ilo\u015b\u0107 (obj\u0119to\u015b\u0107) i\/lub pr\u0119dko\u015b\u0107 (przep\u0142yw) powietrza, kt\u00f3re mo\u017ce by\u0107 wdychane i wydychane.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Tachykardia<\/h2>\n<p>Nienormalnie szybkie t\u0119tno.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Talipes<\/h2>\n<p>Wada wrodzona, w kt\u00f3rej stopa jest skr\u0119cona, zwana r\u00f3wnie\u017c stop\u0105 ko\u0144sko-szpotaw\u0105.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Obj\u0119to\u015b\u0107 oddechowa<\/h2>\n<p>Ilo\u015b\u0107 powietrza, kt\u00f3r\u0105 wdychamy przy ka\u017cdym oddechu.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Tchawica<\/h2>\n<p>Also known as windpipe, this cartilaginous and membranous tube descends from the larynx and branches into the left and right main bronchi.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Tracheotomia<\/h2>\n<p>A surgical procedure that creates an opening for an artificial airway to maintain an individual\u2019s ability to breathe.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Ultrad\u017awi\u0119ki<\/h2>\n<p>A medical test that uses reflected sound waves to \u2018see\u2019 a hidden object. Now widely used in medicine to obtain images of muscle structure, internal organs or an unborn child.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wariant o nieznanym znaczeniu (VOUS lub VUS)<\/h2>\n<p>Mutacja genu, kt\u00f3rej zwi\u0105zek z ryzykiem choroby jest niejasny.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wentylacja<\/h2>\n<p>The process by which the exchange of oxygen (O2) and carbon dioxide (CO2) occurs in the alveoli in the lungs; a constant process of maintaining the proper balance between the O2 and CO2.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Wentylator<\/h2>\n<p>A machine designed to move breathable air into and out of the lungs, to provide breathing for apatient who is physically unable to breathe or breathing insufficiently; can be used with noninvasive ventilation or with invasive ventilation.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Mi\u0119\u015bnie wolicjonalne<\/h2>\n<p>Muscles that can be moved by the free will of the person and are almost always associated with the skeleton system. These muscles are attached to the bones by means of tendons, and they are responsible for all kinds of movements.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Sekwencjonowanie ca\u0142ego egzomu (WES)<\/h2>\n<p>A medical test focused on trying to try to find a genetic cause of your symptoms. Most people who have WES have already had some genetic testing. WES is one of the most extensive genetic tests available. Because WES looks at more genes than most genetic tests, it may find a genetic cause for your symptoms even if previous genetic testing did not. The test utilizes a blood sample for analysis.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Sekwencjonowanie ca\u0142ego genomu (WGS)<\/h2>\n<p>A laboratory process that is used to determine nearly all of the approximately 3 billion nucleotides of an individual\u2019s complete DNA sequence, including non-coding sequence.<\/td>\n<\/tr>\n<tr>\n<td>\n<h2>Dziedziczenie sprz\u0119\u017cone z chromosomem X<\/h2>\n<p>A form of inheritance where a gene lies on the X chromosome. X-linked genes can be dominant but are usually recessive. Girls who carry an altered gene are usually not affected, since they have a second, normal copy of the gene. They are carriers, however, and can pass the affected gene on in50% of their pregnancies. Boys who have only one X chromosome do not have a second normal copy of the gene, so will be affected by the disorder. They will pass on the altered gene to all of their daughters, who will be carriers, but to none of their sons.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/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-4719","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>Glossary - 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\/glossary\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Glossary - 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