Słowniczek
Aktywne ćwiczeniaĆwiczenia, które dana osoba wykonuje przy użyciu własnej siły (patrz ćwiczenia bierne). |
Codzienne czynności życiowe (ADL)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. |
Fizykoterapia w wodzie / hydroterapiaThe 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. |
Gazometria krwi tętniczej - (ABG)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. |
AspiracjaThe drawing of a foreign substance, such as mucus or food, into the respiratory tract during inhalation. |
Wentylacja wspomaganaPatrz wentylacja mechaniczna |
AtrofiaZanik mięśni. |
Zaburzenia autoimmunologiczneConditions in which the immune system produces antibodies that attack the body’s own cells, for example: Crohn’s Disease, dermatomyositis, polymyositis, and myasthenia gravis. LGMD is not an autoimmune disease. |
Dziedziczenie autosomalneWzór dziedziczenia, który w równym stopniu dotyka zarówno mężczyzn, jak i kobiety. Nieprawidłowy gen nie znajduje się na chromosomach X lub Y (zwanych chromosomami płci). |
Wentylacja AVAPAverage 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. |
BiopsjaUsunięcie niewielkiej ilości tkanki do badania. |
Wentylacja BPAP (lub BiPAP)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). |
Cytrynian wapniaThis is a type of calcium and is often recommended by many neurologists for those with muscular dystrophy to prevent osteoporosis. |
KalpainopatiaA 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. |
Kapnografalso known as capnometer; a monitoring device that painlessly measures the concentration of carbon dioxide in exhaled air (end tidal CO2) |
Dwutlenek węgla (CO2)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. |
SerceZwiązane z sercem. |
KardiolodzyDoctors who specialize in preventing, diagnosing, and treating diseases of the heart and blood vessels. |
KardiomiopatiaRefers 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. |
PrzewoźnikAn 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. |
ChromosomyDNA 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. |
Badania i próby kliniczneClinical 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 – each phase is designed to answer a separate research question. |
WrodzonyJeśli cecha lub charakterystyka jest wrodzona, oznacza to, że jest obecna przy urodzeniu. |
PrzykurczAn 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. |
CoughAssistA trademarked device by Philips Respironics that uses positive airway pressure that rapidly reverses to negative pressure to assist an individual’s cough; sometimes called a cough stimulating device or device for cough augmentation |
CPAP, czyli ciągłe dodatnie ciśnienie w drogach oddechowychA 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. |
Kinaza kreatynowa (CK)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. |
Kryteria diagnostyczneGuidelines, rules or characteristics used by a clinician to diagnose somebody with a particular condition. |
MembranaThe 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. |
DystalnyOdnosi się do bycia z dala od centrum ciała, na przykład dłoni i stóp. |
Miopatie dystalneA group of conditions predominantly affecting the muscles farthest away from the center of the body, for example the hands and feet. |
DNA lub kwas dezoksyrybonukleinowyA long molecule that contains our unique genetic code. Like a recipe book it holds the instructions for making all the proteins in our bodies. |
Dziedziczenie dominująceA 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. |
Trwały sprzęt medyczny (DME)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. |
DysfagiaTrudności w połykaniu. |
DystroglikanopatieA 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). |
DystroficznyRelating to or afflicted with dystrophy. Muscles affected by muscular dystrophy may be described as dystrophic. |
DystrofiaThe word originates from two Greek words, ‘dys’ (‘faulty’) and ‘trophe’ (‘nourishment’). Muscular dystrophy refers to a group of disorders characterized by progressive muscle weakness and loss of muscle tissue. |
DysferlinopatiaA muscular dystrophy that is caused by mutations in the dysferlin gene regardless of the clinical presentation. |
EchokardiogramWykorzystanie ultradźwięków do tworzenia obrazów serca. |
Frakcja wyrzutowaThis 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 “ejection fraction” refers to the percentage of blood that is pumped out of a filled ventricle with each heartbeat. The left ventricle is the heart’s 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 “borderline” range. |
Elektrokardiografia (EKG)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. |
Elektromiografia (EMG)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. |
Wentylacja EPAPExpiratory 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. |
ZmęczenieOgromne zmęczenie spowodowane zwłaszcza ciężką pracą lub wysiłkiem. |
Wymuszona pojemność życiowa (FVC)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. |
Wymuszona pojemność życiowa (FVC)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. |
GenGen jest podstawową fizyczną i funkcjonalną jednostką dziedziczności. Geny składają się z DNA. |
Mutacja genuA 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. |
Terapia genowaA 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. |
Doradztwo genetyczneInformation 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. |
Zaburzenia genetyczneConditions or diseases that are determined by the genes or chromosomes are referred to as genetic disorders. |
Testy genetyczneA 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’s chance of developing or passing on a genetic disorder. |
GenomA genome is an organism’s complete set of genetic instructions. Each genome contains all the information needed to build that organism and allow it to grow and develop. |
HiperkapniaWysoki poziom dwutlenku węgla we krwi; często spowodowany nieodpowiednią wentylacją. |
HipopneaPłytki oddech. |
HipotoniaRefers 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. |
HipoksemiaNieprawidłowo niski poziom tlenu we krwi. |
DziedziczenieProces, w którym jednostka nabywa cechy od swoich rodziców lub przodków. |
Wentylacja inwazyjnaRefers to ventilation delivered via tubing from a ventilator through a tracheostomy, a surgically inserted hole in the windpipe (trachea). |
Mięśnie mimowolneInvoluntary 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. |
Dystrofia mięśniowa kończyn dolnych (LGMD)A term used for a GROUP of rare neuromuscular conditions which are inherited and known to cause progressive muscle weakness & wasting. There are more than 30 different forms of LGMD (called subtypes) and all cause weakness of the ’limb-girdle’ muscles — 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. |
LordozaThis 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. |
Obrazowanie metodą rezonansu magnetycznego (MRI)A non-invasive body imaging procedure that uses powerful magnets and radio waves to construct pictures of the internal structures of the body. |
Wentylacja mechaniczna (zwana również wspomaganiem wentylacji lub wentylacją wspomaganą)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). |
Biopsja mięśniUsunięcie niewielkiej ilości tkanki mięśniowej do badania. |
Włókno mięśnioweThe 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. |
MiopatiaKażda choroba mięśni, która nie jest spowodowana dysfunkcją nerwów. |
MiopatiaStan wpływający na mięśnie, zwykle bez zaangażowania nerwów. |
Zapalenie mięśniZapalenie mięśni. |
MiotoniaStan, w którym mięśnie powoli rozluźniają się po skurczu (sztywność mięśni). |
Badanie historii naturalnejA 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. |
NeurolodzyDoctors 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. |
Zaburzenia nerwowo-mięśniowe (NMD)A wide range of diseases affecting the nerves and muscles of the body, often leading to progressive muscle weakness. |
NeuropatiaA 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. |
NomenklaturaRefers 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). |
Nieinwazyjna wentylacja mechaniczna (NIV)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). |
Choroba sierocaPatrz rzadka choroba. |
OrtopedziDoctors who specialize in the bones and joints and the muscles, tendons, and ligaments attached to the bones. |
Wkładki ortopedyczneOdnosi się do urządzeń wspomagających, takich jak aparaty ortopedyczne i szyny. |
Testy paneloweThe 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. |
Ćwiczenie pasywneĆwiczenie wykonywane przez osobę, w którym cały ruch wykonywany jest przez inną osobę lub maszynę. |
Mutacja patogennaMutacja genu (zwana również wariantem genu), która przyczynia się do rozwoju choroby. |
Rejestr pacjentówA 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. |
Zapalenie płucA 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. |
ProksymalnyBlisko środka ciała. |
PtozaOpadające powieki. |
PłucnyAnything that affects, occurs within, or relates to the lungs. Clinicians measure pulmonary function, or lung function to assess how well a patient can breathe. |
Testy czynnościowe płuc - (PFT)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. |
PulmonolodzyLekarze specjalizujący się w zaburzeniach płuc i struktur związanych z płucami, takich jak mięśnie kontrolujące oddychanie. |
PulsoksymetrA 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. |
Fizjoterapeuci (lekarze rehabilitacji)Lekarze specjalizujący się w tak zwanej "medycynie fizycznej i rehabilitacji". |
PsychiatrzyLekarze specjalizujący się w zdrowiu psychicznym i kwestiach emocjonalnych. |
Ćwiczenia zakresu ruchu (ROM)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. |
Rzadka chorobaRare 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. |
Dziedziczenie recesywneA 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. |
Niewydolność oddechowaStan, w którym czynność układu oddechowego jest niewystarczająca do zaspokojenia potrzeb organizmu. |
Niewydolność oddechowa związana z osłabieniem mięśniNiewydolność oddechowa wynikająca z osłabienia mięśni i zazwyczaj nie jest chorobą tkanki płucnej. |
Restrykcyjna choroba płucRefers to chronic lung conditions that limit the ability of a person’s lungs to expand during inhalation. |
RabdomiolizaA 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. |
SarkoglikanopatieSarcoglycanopothies 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. |
SarkolemmaBłona lub skóra otaczająca każde włókno mięśniowe. |
Skrzydło szkaplerzaInvolves 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. |
SkoliozaNieprawidłowe boczne skrzywienie kręgosłupa. |
Mięśnie szkieletoweSkeletal muscles are all the muscles that are attached to our bones. They are also called “voluntary”muscles, which means we can “control” 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. |
Spirometria(co oznacza pomiar oddechu) jest najczęstszym z testów czynności płuc (PFT), mierzącym czynność płuc, w szczególności ilość (objętość) i/lub prędkość (przepływ) powietrza, które może być wdychane i wydychane. |
TachykardiaNienormalnie szybkie tętno. |
TalipesWada wrodzona, w której stopa jest skręcona, zwana również stopą końsko-szpotawą. |
Objętość oddechowaIlość powietrza, którą wdychamy przy każdym oddechu. |
TchawicaAlso known as windpipe, this cartilaginous and membranous tube descends from the larynx and branches into the left and right main bronchi. |
TracheotomiaA surgical procedure that creates an opening for an artificial airway to maintain an individual’s ability to breathe. |
UltradźwiękiA medical test that uses reflected sound waves to ‘see’ a hidden object. Now widely used in medicine to obtain images of muscle structure, internal organs or an unborn child. |
Wariant o nieznanym znaczeniu (VOUS lub VUS)Mutacja genu, której związek z ryzykiem choroby jest niejasny. |
WentylacjaThe 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. |
WentylatorA 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. |
Mięśnie wolicjonalneMuscles 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. |
Sekwencjonowanie całego egzomu (WES)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. |
Sekwencjonowanie całego genomu (WGS)A laboratory process that is used to determine nearly all of the approximately 3 billion nucleotides of an individual’s complete DNA sequence, including non-coding sequence. |
Dziedziczenie sprzężone z chromosomem XA 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. |