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Muscular dystrophy

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926: 249:, usually those involved in making muscle proteins. The muscle protein, dystrophin, is in most muscle cells and works to strengthen the muscle fibers and protect them from injury as muscles contract and relax. It links the muscle membrane to the thin muscular filaments within the cell. Dystrophin is an integral part of the muscular structure. An absence of dystrophin can cause impairments: healthy muscle tissue can be replaced by fibrous tissue and fat, causing an inability to generate force. Respiratory and cardiac complications can occur as well. These mutations are either 2877: 43: 2536: 391: 977:
Occupational therapy may implement changes to a person's environment, both at home or work, to increase the individual's function and accessibility; furthermore, it addresses psychosocial changes and cognitive decline which may accompany MD, and provides support and education about the disease to the family and individual.
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Prognosis depends on the individual form of muscular dystrophy. Some dystrophies cause progressive weakness and loss of muscle function, which may result in severe physical disability and a life-threatening deterioration of respiratory muscles or heart. Other dystrophies do not affect life expectancy
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Low-intensity, assisted exercises, dynamic exercise training, or assisted bicycle training of the arms and legs during a 24-week trial significantly delayed the functional loss of muscular dystrophy. It can be done in a safe and feasible manner, even with boys late in their ambulation stage. However,
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The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking. By age 10, the child may need braces and by age 12, most patients
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Several forms of the congenital muscular dystrophies are caused by defects in proteins thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe
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Occupational therapy assists the individual with MD to engage in activities of daily living (such as self-feeding and self-care activities) and leisure activities at the most independent level possible. This may be achieved with use of adaptive equipment or the use of energy-conservation techniques.
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Causes progressive weakness, initially in the muscles of the face, shoulders, and upper arms. Additional muscles are often affected. Affected individuals can become severely disabled, with 20% requiring a wheelchair by age 50. 30% of cases involve spontaneous mutations. Penetrance and severity seem
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El-Sobky, Tamer A.; Abdulhady, Hala; Mahmoud, Shady; Amen, John (31 January 2024). "Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review".
876:(delayed relaxation of muscles), as well as muscle wasting and weakness. Varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, and eyes. 515:
An MRI can be used to assess the white matter of the nervous system and measure the merosin levels in young boys. An absence of merosin in young boys will result with neurological deficits and changes in the white matter.
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In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist
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Symptoms include muscle weakness and wasting, starting in the distal limb muscles and progressing to involve the limb–girdle muscles. Most patients also have cardiac conduction defects and arrhythmias.
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Outcomes depend on the specific type of disorder. Many affected people will eventually become unable to walk and Duchenne muscular dystrophy in particular is associated with shortened life expectancy.
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over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other
512:. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy. 3386: 2241:
Jansen, Merel; Van Alfen, Nens; Geurts, Alexander C. H.; De Groot, Imelda J. M. (2013). "Assisted Bicycle Training Delays Functional Deterioration in Boys with Duchenne Muscular Dystrophy".
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may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery–Dreifuss muscular dystrophy (EDMD) and myotonic muscular dystrophy may require a
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Birnkrant, DJ; Bushby, K; Bann, CM; Alman, BA; Apkon, SD; Blackwell, A; Case, LE; Cripe, L; Hadjiyannakis, S; Olson, AK; Sheehan, DW; Bolen, J; Weber, DR; Ward, LM (April 2018).
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Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of
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Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to
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There is no cure for any disorder from the muscular dystrophy group. Several drugs designed to address the root cause are currently available including
3411: 218:(DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. Other relatively common muscular dystrophies include 1825: 1037: 969:(delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine. 925: 1796: 3070: 3027: 2833: 2756: 1486: 1050: 1021: 764: 223: 105: 3119: 2963: 2751: 726: 3075: 2999: 2424: 2293: 2225: 1735: 1236: 1697: 1938: 1189: 2284:
Lehman, R. M.; McCormack, G. L. (2001). "Neurogenic and Myopathic Dysfunction". In Pedretti, Lorraine Williams; Early, Mary Beth (eds.).
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Bird, T. D.; Adam, M. P.; Everman, D. B.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993).
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Symptoms include general muscle weakness and possible joint deformities. Disease progresses slowly, and lifespan is shortened.
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gave a comprehensive account of the most common and severe form of the disease, which now carries his name – Duchenne MD.
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The person normally leads a normal life with some assistance. Rare cardiopulmonary complications can be life-threatening.
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Bădilă, E; Lungu, II; Grumezescu, AM; Scafa Udriște, A; Rosenthal, David; Duboc, Denis; Melacini, Paola (12 May 2021).
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eccentric exercises, or intense exercises causing soreness should not be used as they can cause further damage.
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Griffiths, Anthony JF; Miller, Jeffrey H.; Suzuki, David T.; Lewontin, Richard C.; Gelbart, William M. (2000).
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Caring for Children with Special Healthcare Needs and Their Families: A Handbook for Healthcare Professionals
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are unable to walk. Typical lifespans range from 15 to 45. Sporadic mutations in this gene occur frequently.
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Verhaert, David; Richards, Kathryn; Rafael-Fortney, Jill A.; Raman, Subha V. (January 2011).
2128:"The Canadian experience with long term deflazacort treatment in Duchenne muscular dystrophy" 3446: 3146: 3140: 2729: 2505: 2497: 2462: 2322: 2250: 2188: 2180: 2139: 1970: 1872: 1864: 1723: 1567: 1449: 1439: 1398: 1390: 1359: 1301: 1283: 1242: 1224: 934: 505: 349: 345: 254: 204: 166: 162: 77: 3248: 3231: 2827: 2428: 2409: 2402: 2050: 1640: 1620: 1329: 625:, or muscle degeneration may be paired with effects on the brain and other organ systems. 622: 509: 325: 278: 158: 148: 2845: 2484:
Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (December 2011).
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to provide research for the various muscular dystrophies. This law also established the
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In affected muscle (right), the tissue has become disorganized and the concentration of
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Laing, Nigel G; Davis, Mark R; Bayley, Klair; Fletcher, Sue; Wilton, Steve D (2011).
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McAdam, Laura C.; Mayo, Amanda L.; Alman, Benjamin A.; Biggar, W. Douglas (2012).
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Distal limbs progressing to generalised weakness, involving respiratory muscles
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are themselves groups of several – usually extremely rare – genetic disorders.
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Over 30 different disorders are classified as muscular dystrophies. Of those,
51: 2254: 1975: 1579: 1444: 481:). In a small percentage of patients, the disorder may have been caused by a 2662: 1645: 1334: 1016: 933:
Currently, there is no cure for muscular dystrophy. In terms of management,
692: 413: 390: 321: 181: 2519: 2476: 2336: 2262: 2202: 2153: 2019: 1984: 1886: 1745: 1587: 1463: 1412: 1363: 1315: 1272:"The Dystrophin Complex: Structure, Function, and Implications for Therapy" 1256: 1901:"Facioscapulohumeral muscular dystrophy: MedlinePlus Medical Encyclopedia" 1271: 469:; the different muscular dystrophies follow various inheritance patterns ( 3219: 2985: 1690:"Duchenne Muscular Dystrophy. What is muscular dystrophy? | Patient" 1287: 1228: 966: 954: 873: 470: 466: 297: 250: 242: 123: 2570: 353: 329: 170: 2449:
De Los Angeles BeytĂ­a, Maria; Vry, Julia; Kirschner, Janbernd (2012).
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to help focus research efforts through a coherent research strategy.
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Gao, Q. Q.; McNally, E. M. (2011-01-17). Terjung, Ronald (ed.).
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The diagnosis of muscular dystrophy is based on the results of
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Occupational Therapy: Practice Skills for Physical Dysfunction
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The signs and symptoms consistent with muscular dystrophy are:
1863:(6, Muscle and Neuromuscular Junction Disorders): 1916–1931. 1789:"Emery-Dreifuss muscular dystrophy - Genetics Home Reference" 54:(green) is greatly reduced, compared to normal muscle (left). 1428:"Diagnosis of Cardiac Abnormalities in Muscular Dystrophies" 2169:"Cardiac Involvement in Patients With Muscular Dystrophies" 1846: 1844: 1842: 1627:, as submitted by Department of Health and Human Service's 1609: 1607: 1605: 790:
Face, shoulders, upper arms, progressing to other muscles
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Myotonic Dystrophy Type 1 - GeneReviewsÂŽ - NCBI Bookshelf
1933:. Brentwood, Essex: Multi-Science Publ. Co. p. 121. 957:(orthopedic appliances used for support) and corrective 2356:
National Institute of Neurological Disorders and Stroke
1223:. Vol. 5 (1 ed.). Wiley. pp. 1223–1239. 370:
Muscular dystrophy was first described in the 1830s by
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Diseases in which skeletal muscle breaks down over time
2380:"The End of the Jerry Lewis Telethon—It's About Time" 324:); to slow skeletal and cardiac muscle degeneration, 2560: 1956:"The myotonic dystrophies: diagnosis and management" 3480: 3396: 3337: 3313: 3293: 3263: 3218: 3204: 3132: 3091: 3046: 3008: 2993: 2984: 2938: 2855: 2820: 2787: 2717: 2642: 2564: 1963:
Journal of Neurology, Neurosurgery & Psychiatry
1718:Udd, Bjarne (2011). "Distal muscular dystrophies". 444:
Calf deformation as in Duchenne muscular dystrophy.
180: 154: 142: 119: 92: 84: 70: 58: 35: 1270:Gao, Quan Q.; McNally, Elizabeth M. (2015-06-24). 2486:"Congenital Muscular Dystrophies: A Brief Review" 2068:"What are the treatments for muscular dystrophy?" 710:Distal muscles in hands, forearms and lower legs 579:Distal limbs progressing to generalised weakness 203:that cause progressive weakness and breakdown of 1352:Journal of Musculoskeletal Surgery and Research 3523:Myoneural junction and neuromuscular diseases 2907: 2695: 1344: 1342: 1032:was signed into law in the US; it amends the 912:Eye muscles, face, throat, pelvis, shoulders 869:Skeletal muscles, heart, other muscle groups 422:leads to limited range of movement of joints. 416:(abnormal curvature of the spine or the back) 8: 1184: 1182: 1180: 1178: 1176: 1174: 1172: 1170: 374:. The word "dystrophy" comes from the Greek 2351:"Muscular Dystrophy: Hope Through Research" 1525:"NIH /How is muscular dystrophy diagnosed?" 1479:"Muscular dystrophy - Causes - NHS Choices" 1190:"Muscular Dystrophy: Hope Through Research" 1168: 1166: 1164: 1162: 1160: 1158: 1156: 1154: 1152: 1150: 1125:"NINDS Muscular Dystrophy Information Page" 986:and only cause relatively mild impairment. 713:Progress is slow and not life-threatening. 3215: 3005: 2990: 2914: 2900: 2892: 2702: 2688: 2680: 2561: 1119: 1117: 1115: 1113: 794:to be lower in females compared to males. 360:may be required in those with weakness of 41: 32: 2509: 2466: 2326: 2192: 2143: 1974: 1876: 1453: 1443: 1402: 1305: 1246: 1111: 1109: 1107: 1105: 1103: 1101: 1099: 1097: 1095: 1093: 1038:Muscular Dystrophy Coordinating Committee 465:The majority of muscular dystrophies are 1853:"Facioscapulohumeral Muscular Dystrophy" 1851:Statland, JM; Tawil, R (December 2016). 1330:Muscular Dystrophy Clinical Presentation 924: 754:Distal limb muscles, limb-girdle, heart 523: 2288:(5th ed.). Mosby. pp. 802–3. 2062: 2060: 1089: 2046: 2036: 1641:Congenital Muscular Dystrophy~clinical 1051:Fukuyama congenital muscular dystrophy 765:Facioscapulohumeral muscular dystrophy 304:etc.). Other medications used include 224:facioscapulohumeral muscular dystrophy 106:facioscapulohumeral muscular dystrophy 2243:Neurorehabilitation and Neural Repair 2098:"Muscular Dystrophy-OrthoInfo - AAOS" 2014:. University of Washington, Seattle. 1954:Turner, C.; Hilton-Jones, D. (2010). 7: 2788:National/International Organizations 2173:Circulation: Cardiovascular Imaging 241:Muscular dystrophies are caused by 76:Increasing weakening, breakdown of 3175:BIN1-linked centronuclear myopathy 1728:10.1016/B978-0-08-045031-5.00016-5 1722:. Vol. 101. pp. 239–62. 953:may help to maintain muscle tone. 883:Oculopharyngeal muscular dystrophy 441:as in Duchenne muscular dystrophy. 356:may help with some symptoms while 186:Depends on the particular disorder 25: 3456:Testosterone deficiency myopathy 2964:Lambert–Eaton myasthenic syndrome 2078:from the original on 7 April 2016 1535:from the original on 7 April 2016 727:Emery–Dreifuss muscular dystrophy 3412:Kocher–Debre–Semelaigne syndrome 3061:Limb-girdle muscular dystrophy 2 3018:Limb-girdle muscular dystrophy 1 2876: 2875: 2534: 398:indicative of muscular dystrophy 2490:Seminars in Pediatric Neurology 2403:H.R. 717--107th Congress (2001) 2315:The Clinical Biochemist Reviews 2108:from the original on 2016-04-12 2026:from the original on 2017-01-18 1911:from the original on 2016-07-04 1828:from the original on 2017-03-24 1799:from the original on 2017-03-12 1700:from the original on 2016-12-02 1671:from the original on 2017-04-05 1489:from the original on 2016-04-02 1196:. March 4, 2016. Archived from 1131:. March 4, 2016. Archived from 941:, orthotic intervention (e.g., 751:Childhood, early teenage years 3353:Fatty-acid metabolism disorder 2976:Congenital myasthenic syndrome 2795:Muscular Dystrophy Association 2762:Limb–girdle muscular dystrophy 2185:10.1161/CIRCIMAGING.110.960740 1857:Continuum (Minneapolis, Minn.) 1720:Handbook of Clinical Neurology 1066:Muscular Dystrophy Association 1013:Muscular Dystrophy Association 1007:In 1966 in the US and Canada, 801:Limb–girdle muscular dystrophy 717:limb–girdle muscular dystrophy 586:, affects predominantly boys. 334:Histone deacetylase inhibitors 332:and some muscle activity, and 261:. Muscular dystrophies may be 232:limb–girdle muscular dystrophy 110:limb–girdle muscular dystrophy 1: 3465:Hypogonadotropic hypogonadism 2821:National/International Events 2806:Myotonic Dystrophy Foundation 1931:Sports Science Handbook:I - Z 1629:National Institutes of Health 1572:10.1016/S0140-6736(02)07815-7 1554:Emery, Alan EH (2002-02-23). 1395:10.1016/S1474-4422(18)30025-5 629:brain malformations, such as 593:Congenital muscular dystrophy 430:Progressive inability to walk 236:congenital muscular dystrophy 1929:Jenkins, Simon P.R. (2005). 1869:10.1212/CON.0000000000000399 1432:Medicina (Kaunas, Lithuania) 407:Progressive muscular wasting 394:Severe limb deformities and 2008:"Myotonic Dystrophy Type 1" 1614:May 2006 report to Congress 834:Myotonic muscular dystrophy 645:Duchenne muscular dystrophy 584:Duchenne muscular dystrophy 340:) to delay damage to dying 273:. Diagnosis often involves 216:Duchenne muscular dystrophy 98:Duchenne muscular dystrophy 3539: 2502:10.1016/j.spen.2011.10.010 2378:Berman, Ari (2011-09-02). 1556:"The muscular dystrophies" 1028:On December 18, 2001, the 3442:Hyperparathyroid myopathy 2871: 2801:Muscular Dystrophy Canada 2220:. John Wiley & Sons. 1623:on Implementation of the 1077:Spinal muscular atrophies 1072:Muscular Dystrophy Canada 1034:Public Health Service Act 681:Distal muscular dystrophy 582:A less severe variant of 554:Becker muscular dystrophy 220:Becker muscular dystrophy 102:Becker muscular dystrophy 49: 40: 3437:Hypoparathyroid myopathy 3348:Glycogen storage disease 2431:, PDF as retrieved from 2255:10.1177/1545968313496326 1976:10.1136/jnnp.2008.158261 1445:10.3390/medicina57050488 1276:Comprehensive Physiology 1221:Comprehensive Physiology 1022:The Jerry Lewis Telethon 378:, meaning "no, un-" and 318:calcium channel blockers 3460:Late-onset hypogonadism 3451:Corticosteroid myopathy 3169:adaptor protein disease 2216:Eddy, Linda L. (2013). 1015:(MDA) began the annual 3363:Mitochondrial myopathy 3256:Paramyotonia congenita 2928:neuromuscular junction 1364:10.25259/JMSR_229_2023 930: 502:creatine phosphokinase 486:(spontaneous) mutation 399: 251:inherited from parents 201:neuromuscular diseases 65:Neuromuscular medicine 3488:Inflammatory myopathy 2932:neuromuscular disease 1510:Spontaneous mutations 1383:The Lancet. Neurology 1061:Muscular Dystrophy UK 928: 616:Generalised weakness 393: 3301:Central core disease 3183:cytoskeleton disease 2863:Stamulumab (MYO-029) 2836:(defunct; US/Canada) 1288:10.1002/cphy.c140048 1229:10.1002/cphy.c140048 1200:on 30 September 2016 939:occupational therapy 824:Upper arms and legs 538:Inheritance pattern 358:assisted ventilation 193:Muscular dystrophies 175:assisted ventilation 3493:Congenital myopathy 3470:Androgen deficiency 3430:Thyrotoxic myopathy 3028:Facioscapulohumeral 2757:Facioscapulohumeral 1003:Society and culture 943:ankle-foot orthosis 929:Ankle foot orthosis 475:autosomal recessive 382:meaning "nourish". 267:autosomal recessive 132:autosomal recessive 96:> 30, including 3518:Muscular dystrophy 3339:Metabolic myopathy 3265:Periodic paralysis 3227:Myotonia congenita 2995:Muscular dystrophy 2834:Labor Day Telethon 2711:Muscular dystrophy 2643:External resources 2552:Muscular dystrophy 2427:2012-11-07 at the 2408:2012-02-19 at the 2102:orthoinfo.aaos.org 1619:2014-04-05 at the 1056:Muscle hypertrophy 997:Guillaume Duchenne 959:orthopedic surgery 931: 479:autosomal dominant 420:Muscle Contracture 400: 386:Signs and symptoms 271:autosomal dominant 263:X-linked recessive 228:myotonic dystrophy 136:autosomal dominant 128:X-linked recessive 114:myotonic dystrophy 36:Muscular dystrophy 18:Muscular Dystrophy 3505: 3504: 3501: 3500: 3417:Hoffmann syndrome 3309: 3308: 3189:Nemaline myopathy 3128: 3127: 2959:Myasthenia gravis 2889: 2888: 2811:Muskelsvindfonden 2677: 2676: 2422:Public Law 107-84 2295:978-0-323-00765-8 2227:978-1-118-51797-0 1737:978-0-08-045031-5 1566:(9307): 687–695. 1238:978-0-470-65071-4 918: 917: 544:Muscles affected 362:breathing muscles 352:, and corrective 259:early development 190: 189: 144:Diagnostic method 80:, trouble walking 30:Medical condition 16:(Redirected from 3530: 3447:Hypercortisolism 3358:AMPD1 deficiency 3314:ATPase disorder 3216: 3147:Bethlem myopathy 3141:collagen disease 3133:Other structural 3006: 2991: 2944:junction disease 2916: 2909: 2902: 2893: 2879: 2878: 2730:Dystrophinopathy 2704: 2697: 2690: 2681: 2562: 2538: 2537: 2523: 2513: 2480: 2470: 2436: 2419: 2413: 2400: 2394: 2393: 2391: 2390: 2375: 2369: 2368: 2366: 2364: 2347: 2341: 2340: 2330: 2306: 2300: 2299: 2281: 2275: 2274: 2238: 2232: 2231: 2213: 2207: 2206: 2196: 2164: 2158: 2157: 2147: 2123: 2117: 2116: 2114: 2113: 2094: 2088: 2087: 2085: 2083: 2064: 2055: 2054: 2048: 2044: 2042: 2034: 2032: 2031: 2003: 1997: 1996: 1978: 1960: 1951: 1945: 1944: 1940:978-0906522-37-0 1926: 1920: 1919: 1917: 1916: 1897: 1891: 1890: 1880: 1848: 1837: 1836: 1834: 1833: 1814: 1808: 1807: 1805: 1804: 1785: 1779: 1778: 1776: 1775: 1766:. Archived from 1756: 1750: 1749: 1715: 1709: 1708: 1706: 1705: 1686: 1680: 1679: 1677: 1676: 1657: 1648: 1637: 1631: 1611: 1600: 1599: 1551: 1545: 1544: 1542: 1540: 1521: 1515: 1514: 1504: 1498: 1497: 1495: 1494: 1474: 1468: 1467: 1457: 1447: 1423: 1417: 1416: 1406: 1374: 1368: 1367: 1346: 1337: 1326: 1320: 1319: 1309: 1282:(3): 1223–1239. 1267: 1261: 1260: 1250: 1216: 1210: 1209: 1207: 1205: 1186: 1145: 1144: 1142: 1140: 1121: 935:physical therapy 524: 506:electromyography 346:Physical therapy 205:skeletal muscles 163:physical therapy 78:skeletal muscles 45: 33: 21: 3538: 3537: 3533: 3532: 3531: 3529: 3528: 3527: 3508: 3507: 3506: 3497: 3476: 3392: 3333: 3305: 3289: 3259: 3249:Isaacs syndrome 3232:Thomsen disease 3200: 3124: 3087: 3042: 3023:Oculopharyngeal 2997: 2980: 2942: 2934: 2920: 2890: 2885: 2867: 2856:Clinical trials 2851: 2828:MDA Muscle Walk 2816: 2783: 2779:Oculopharyngeal 2713: 2708: 2678: 2673: 2672: 2638: 2637: 2573: 2559: 2558: 2557: 2539: 2535: 2530: 2483: 2448: 2445: 2443:Further reading 2440: 2439: 2429:Wayback Machine 2420: 2416: 2410:Wayback Machine 2401: 2397: 2388: 2386: 2377: 2376: 2372: 2362: 2360: 2359:. 23 March 2020 2349: 2348: 2344: 2308: 2307: 2303: 2296: 2283: 2282: 2278: 2240: 2239: 2235: 2228: 2215: 2214: 2210: 2166: 2165: 2161: 2125: 2124: 2120: 2111: 2109: 2096: 2095: 2091: 2081: 2079: 2066: 2065: 2058: 2045: 2035: 2029: 2027: 2005: 2004: 2000: 1958: 1953: 1952: 1948: 1941: 1928: 1927: 1923: 1914: 1912: 1899: 1898: 1894: 1850: 1849: 1840: 1831: 1829: 1822:Ghr.nlm.nih.gov 1816: 1815: 1811: 1802: 1800: 1793:Ghr.nlm.nih.gov 1787: 1786: 1782: 1773: 1771: 1758: 1757: 1753: 1738: 1717: 1716: 1712: 1703: 1701: 1688: 1687: 1683: 1674: 1672: 1665:medlineplus.gov 1659: 1658: 1651: 1638: 1634: 1621:Wayback Machine 1612: 1603: 1553: 1552: 1548: 1538: 1536: 1523: 1522: 1518: 1506: 1505: 1501: 1492: 1490: 1476: 1475: 1471: 1425: 1424: 1420: 1376: 1375: 1371: 1348: 1347: 1340: 1327: 1323: 1298: 1269: 1268: 1264: 1239: 1218: 1217: 1213: 1203: 1201: 1188: 1187: 1148: 1138: 1136: 1135:on 30 July 2016 1123: 1122: 1091: 1086: 1081: 1068:(United States) 1046: 1005: 992: 983: 923: 853: 842: 623:skeletal muscle 522: 510:genetic testing 494: 463: 458: 388: 326:anticonvulsants 306:glucocorticoids 294:antisense drugs 279:genetic testing 159:Pharmacotherapy 149:Genetic testing 31: 28: 23: 22: 15: 12: 11: 5: 3536: 3534: 3526: 3525: 3520: 3510: 3509: 3503: 3502: 3499: 3498: 3496: 3495: 3490: 3484: 3482: 3478: 3477: 3475: 3474: 3473: 3472: 3467: 3462: 3454: 3453: 3452: 3444: 3439: 3434: 3433: 3432: 3421: 3420: 3419: 3414: 3402: 3400: 3398:Endocrinopathy 3394: 3393: 3391: 3390: 3384: 3379: 3374: 3369: 3360: 3355: 3350: 3343: 3341: 3335: 3334: 3332: 3322: 3320: 3319: 3318: 3311: 3310: 3307: 3306: 3304: 3303: 3297: 3295: 3291: 3290: 3288: 3287: 3282: 3281: 3280: 3269: 3267: 3261: 3260: 3258: 3253: 3252: 3251: 3241: 3240: 3239: 3237:Becker disease 3234: 3224: 3222: 3213: 3212: 3211: 3202: 3201: 3199: 3198: 3197: 3196: 3191: 3179: 3178: 3177: 3165: 3164: 3163: 3151: 3150: 3149: 3136: 3134: 3130: 3129: 3126: 3125: 3123: 3122: 3120:Emery–Dreifuss 3117: 3116: 3115: 3110: 3097: 3095: 3089: 3088: 3086: 3085: 3084: 3083: 3081:Walker–Warburg 3078: 3073: 3063: 3058: 3052: 3050: 3044: 3043: 3041: 3040: 3035: 3030: 3025: 3020: 3014: 3012: 3003: 2988: 2982: 2981: 2979: 2978: 2973: 2972: 2971: 2966: 2961: 2948: 2946: 2940:Neuromuscular- 2936: 2935: 2921: 2919: 2918: 2911: 2904: 2896: 2887: 2886: 2884: 2883: 2872: 2869: 2868: 2866: 2865: 2859: 2857: 2853: 2852: 2850: 2849: 2843: 2837: 2831: 2824: 2822: 2818: 2817: 2815: 2814: 2808: 2803: 2798: 2791: 2789: 2785: 2784: 2782: 2781: 2776: 2771: 2770: 2769: 2759: 2754: 2752:Emery-Dreifuss 2749: 2744: 2743: 2742: 2737: 2727: 2721: 2719: 2715: 2714: 2709: 2707: 2706: 2699: 2692: 2684: 2675: 2674: 2671: 2670: 2659: 2647: 2646: 2644: 2640: 2639: 2636: 2635: 2624: 2605: 2590: 2574: 2569: 2568: 2566: 2565:Classification 2540: 2533: 2532: 2531: 2529: 2528:External links 2526: 2525: 2524: 2496:(4): 277–288. 2481: 2455:Acta Myologica 2444: 2441: 2438: 2437: 2414: 2395: 2370: 2342: 2321:(3): 129–134. 2301: 2294: 2276: 2249:(9): 816–827. 2233: 2226: 2208: 2159: 2132:Acta Myologica 2118: 2089: 2056: 2047:|website= 1998: 1946: 1939: 1921: 1907:. 2017-03-09. 1892: 1838: 1809: 1795:. 2017-03-07. 1780: 1751: 1736: 1710: 1696:. 2016-04-15. 1681: 1649: 1632: 1601: 1546: 1516: 1499: 1477:Choices, NHS. 1469: 1418: 1389:(4): 347–361. 1369: 1338: 1321: 1296: 1262: 1237: 1211: 1146: 1088: 1087: 1085: 1082: 1080: 1079: 1074: 1069: 1063: 1058: 1053: 1047: 1045: 1042: 1004: 1001: 991: 988: 982: 979: 922: 919: 916: 915: 913: 910: 907: 898: 891: 886: 878: 877: 872:Presents with 870: 867: 864: 859: 846: 837: 829: 828: 825: 822: 819: 810: 807: 804: 796: 795: 791: 788: 785: 780: 773: 768: 760: 759: 755: 752: 749: 736: 733: 730: 722: 721: 711: 708: 705: 696: 689: 684: 676: 675: 671: 668: 665: 660: 653: 648: 640: 639: 617: 614: 611: 602: 599: 596: 588: 587: 580: 577: 574: 569: 562: 557: 549: 548: 545: 542: 539: 536: 533: 528: 527:Disorder name 521: 520:Classification 518: 493: 490: 462: 459: 457: 456: 454:Cardiomyopathy 451: 445: 442: 436: 431: 428: 423: 417: 411: 408: 404: 387: 384: 188: 187: 184: 178: 177: 156: 152: 151: 146: 140: 139: 121: 117: 116: 94: 90: 89: 86: 82: 81: 74: 68: 67: 62: 56: 55: 47: 46: 38: 37: 29: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 3535: 3524: 3521: 3519: 3516: 3515: 3513: 3494: 3491: 3489: 3486: 3485: 3483: 3479: 3471: 3468: 3466: 3463: 3461: 3458: 3457: 3455: 3450: 3449: 3448: 3445: 3443: 3440: 3438: 3435: 3431: 3428: 3427: 3425: 3422: 3418: 3415: 3413: 3410: 3409: 3407: 3404: 3403: 3401: 3399: 3395: 3388: 3385: 3383: 3380: 3378: 3375: 3373: 3370: 3368: 3364: 3361: 3359: 3356: 3354: 3351: 3349: 3345: 3344: 3342: 3340: 3336: 3330: 3326: 3325:Brody disease 3323: 3321: 3316: 3315: 3312: 3302: 3299: 3298: 3296: 3292: 3286: 3283: 3279: 3276: 3275: 3274: 3271: 3270: 3268: 3266: 3262: 3257: 3254: 3250: 3247: 3246: 3245: 3244:Neuromyotonia 3242: 3238: 3235: 3233: 3230: 3229: 3228: 3225: 3223: 3221: 3217: 3214: 3210:(ion channel) 3209: 3208: 3207: 3206:Channelopathy 3203: 3195: 3192: 3190: 3187: 3186: 3185: 3184: 3180: 3176: 3173: 3172: 3171: 3170: 3166: 3162: 3159: 3158: 3157: 3156: 3152: 3148: 3145: 3144: 3143: 3142: 3138: 3137: 3135: 3131: 3121: 3118: 3114: 3111: 3109: 3106: 3105: 3104: 3103: 3099: 3098: 3096: 3094: 3090: 3082: 3079: 3077: 3074: 3072: 3069: 3068: 3067: 3064: 3062: 3059: 3057: 3056:Calpainopathy 3054: 3053: 3051: 3049: 3045: 3039: 3038:Distal (most) 3036: 3034: 3031: 3029: 3026: 3024: 3021: 3019: 3016: 3015: 3013: 3011: 3007: 3004: 3001: 2996: 2992: 2989: 2987: 2983: 2977: 2974: 2970: 2969:Neuromyotonia 2967: 2965: 2962: 2960: 2957: 2956: 2955: 2954: 2950: 2949: 2947: 2945: 2941: 2937: 2933: 2929: 2925: 2917: 2912: 2910: 2905: 2903: 2898: 2897: 2894: 2882: 2874: 2873: 2870: 2864: 2861: 2860: 2858: 2854: 2847: 2844: 2841: 2838: 2835: 2832: 2829: 2826: 2825: 2823: 2819: 2812: 2809: 2807: 2804: 2802: 2799: 2796: 2793: 2792: 2790: 2786: 2780: 2777: 2775: 2772: 2768: 2767:Calpainopathy 2765: 2764: 2763: 2760: 2758: 2755: 2753: 2750: 2748: 2745: 2741: 2738: 2736: 2733: 2732: 2731: 2728: 2726: 2723: 2722: 2720: 2716: 2712: 2705: 2700: 2698: 2693: 2691: 2686: 2685: 2682: 2669: 2665: 2664: 2660: 2658: 2654: 2653: 2649: 2648: 2645: 2641: 2634: 2630: 2629: 2625: 2623: 2619: 2615: 2614: 2610: 2606: 2604: 2600: 2599: 2595: 2591: 2589: 2585: 2584: 2580: 2576: 2575: 2572: 2567: 2563: 2555: 2554: 2553: 2547: 2543: 2527: 2521: 2517: 2512: 2507: 2503: 2499: 2495: 2491: 2487: 2482: 2478: 2474: 2469: 2464: 2460: 2456: 2452: 2447: 2446: 2442: 2434: 2430: 2426: 2423: 2418: 2415: 2411: 2407: 2404: 2399: 2396: 2385: 2381: 2374: 2371: 2358: 2357: 2352: 2346: 2343: 2338: 2334: 2329: 2324: 2320: 2316: 2312: 2305: 2302: 2297: 2291: 2287: 2280: 2277: 2272: 2268: 2264: 2260: 2256: 2252: 2248: 2244: 2237: 2234: 2229: 2223: 2219: 2212: 2209: 2204: 2200: 2195: 2190: 2186: 2182: 2178: 2174: 2170: 2163: 2160: 2155: 2151: 2146: 2141: 2137: 2133: 2129: 2122: 2119: 2107: 2103: 2099: 2093: 2090: 2077: 2074:. NIH. 2015. 2073: 2069: 2063: 2061: 2057: 2052: 2040: 2025: 2021: 2017: 2013: 2009: 2002: 1999: 1994: 1990: 1986: 1982: 1977: 1972: 1969:(4): 358–67. 1968: 1964: 1957: 1950: 1947: 1942: 1936: 1932: 1925: 1922: 1910: 1906: 1902: 1896: 1893: 1888: 1884: 1879: 1874: 1870: 1866: 1862: 1858: 1854: 1847: 1845: 1843: 1839: 1827: 1823: 1819: 1813: 1810: 1798: 1794: 1790: 1784: 1781: 1770:on 2017-03-10 1769: 1765: 1761: 1755: 1752: 1747: 1743: 1739: 1733: 1729: 1725: 1721: 1714: 1711: 1699: 1695: 1691: 1685: 1682: 1670: 1666: 1662: 1656: 1654: 1650: 1647: 1643: 1642: 1636: 1633: 1630: 1626: 1622: 1618: 1615: 1610: 1608: 1606: 1602: 1597: 1593: 1589: 1585: 1581: 1577: 1573: 1569: 1565: 1561: 1557: 1550: 1547: 1534: 1531:. NIH. 2015. 1530: 1526: 1520: 1517: 1512: 1511: 1503: 1500: 1488: 1484: 1480: 1473: 1470: 1465: 1461: 1456: 1451: 1446: 1441: 1437: 1433: 1429: 1422: 1419: 1414: 1410: 1405: 1400: 1396: 1392: 1388: 1384: 1380: 1373: 1370: 1365: 1361: 1357: 1353: 1345: 1343: 1339: 1336: 1332: 1331: 1325: 1322: 1317: 1313: 1308: 1303: 1299: 1297:9780470650714 1293: 1289: 1285: 1281: 1277: 1273: 1266: 1263: 1258: 1254: 1249: 1244: 1240: 1234: 1230: 1226: 1222: 1215: 1212: 1199: 1195: 1191: 1185: 1183: 1181: 1179: 1177: 1175: 1173: 1171: 1169: 1167: 1165: 1163: 1161: 1159: 1157: 1155: 1153: 1151: 1147: 1134: 1130: 1126: 1120: 1118: 1116: 1114: 1112: 1110: 1108: 1106: 1104: 1102: 1100: 1098: 1096: 1094: 1090: 1083: 1078: 1075: 1073: 1070: 1067: 1064: 1062: 1059: 1057: 1054: 1052: 1049: 1048: 1043: 1041: 1039: 1035: 1031: 1026: 1024: 1023: 1018: 1014: 1010: 1002: 1000: 998: 989: 987: 980: 978: 974: 970: 968: 964: 960: 956: 952: 948: 944: 940: 936: 927: 920: 914: 911: 908: 906: 902: 899: 897: 896: 892: 890: 887: 885: 884: 880: 879: 875: 871: 868: 865: 863: 860: 858: 857: 852: 851: 847: 845: 841: 838: 836: 835: 831: 830: 826: 823: 820: 818: 814: 811: 808: 805: 803: 802: 798: 797: 792: 789: 786: 784: 781: 779: 778: 774: 772: 769: 767: 766: 762: 761: 756: 753: 750: 748: 744: 740: 737: 734: 731: 729: 728: 724: 723: 720: 718: 712: 709: 706: 704: 700: 697: 695: 694: 690: 688: 685: 683: 682: 678: 677: 672: 669: 666: 664: 661: 659: 658: 654: 652: 649: 647: 646: 642: 641: 638: 636: 635:hydrocephalus 632: 631:lissencephaly 626: 624: 618: 615: 612: 610: 606: 603: 600: 597: 595: 594: 590: 589: 585: 581: 578: 575: 573: 570: 568: 567: 563: 561: 558: 556: 555: 551: 550: 546: 543: 541:Age of onset 540: 537: 534: 532: 529: 526: 525: 519: 517: 513: 511: 507: 503: 499: 498:muscle biopsy 491: 489: 487: 485: 480: 476: 472: 468: 460: 455: 452: 449: 446: 443: 440: 437: 435: 434:Waddling gait 432: 429: 427: 426:Muscle spasms 424: 421: 418: 415: 412: 409: 406: 405: 403: 397: 392: 385: 383: 381: 377: 373: 368: 365: 363: 359: 355: 351: 347: 343: 339: 335: 331: 327: 323: 319: 315: 311: 307: 303: 299: 295: 291: 287: 282: 280: 276: 272: 268: 264: 260: 256: 255:spontaneously 253:or may occur 252: 248: 244: 239: 237: 233: 229: 225: 221: 217: 212: 210: 206: 202: 198: 194: 185: 183: 179: 176: 172: 169:, corrective 168: 164: 160: 157: 153: 150: 147: 145: 141: 137: 133: 129: 125: 122: 118: 115: 111: 107: 103: 99: 95: 91: 87: 83: 79: 75: 73: 69: 66: 63: 61: 57: 53: 48: 44: 39: 34: 19: 3424:Hyperthyroid 3285:Hyperkalemic 3181: 3167: 3161:X-linked MTM 3153: 3139: 3100: 2994: 2951: 2922:Diseases of 2846:Grøn Koncert 2710: 2668:orthoped/418 2661: 2650: 2626: 2607: 2592: 2577: 2550: 2549: 2548:profile for 2545: 2493: 2489: 2458: 2454: 2417: 2398: 2387:. 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Retrieved 1133:the original 1128: 1027: 1020: 1006: 993: 984: 975: 971: 932: 909:40–50 years 893: 881: 854: 848: 832: 799: 787:Adolescence 775: 763: 725: 714: 707:20–60 years 691: 679: 655: 643: 627: 620: 591: 564: 552: 547:Description 514: 500:, increased 495: 483: 464: 439:Gowers' sign 410:Poor balance 401: 396:contractures 379: 375: 372:Charles Bell 369: 366: 342:muscle cells 286:gene therapy 283: 240: 213: 196: 192: 191: 3406:Hypothyroid 3273:Hypokalemic 3155:PTP disease 2652:MedlinePlus 1905:Nlm.nih.gov 1625:MD CARE Act 1030:MD CARE Act 1009:Jerry Lewis 951:deflazacort 450:difficulty 448:Respiratory 328:to control 310:Deflazacort 275:blood tests 3512:Categories 3317:(ion pump) 3278:Thyrotoxic 3194:Zaspopathy 3102:dystrophin 3066:Congenital 2953:autoimmune 2840:DĂŠcrypthon 2725:Congenital 2461:(1): 4–8. 2389:2017-03-14 2384:The Nation 2112:2016-04-10 2030:2017-03-14 1915:2017-03-14 1832:2017-03-14 1803:2017-03-14 1774:2017-03-14 1704:2017-03-14 1675:2017-03-14 1560:The Lancet 1493:2016-04-10 1483:www.nhs.uk 1438:(5): 488. 1084:References 947:prednisone 921:Management 866:Adulthood 667:Childhood 576:Childhood 338:Givinostat 314:Vamorolone 302:Eteplirsen 230:, whereas 52:dystrophin 3426:myopathy 3408:myopathy 2848:(Denmark) 2813:(Denmark) 2663:eMedicine 2049:ignored ( 2039:cite book 1646:eMedicine 1580:0140-6736 1358:: 11–23. 1335:eMedicine 1019:telecast 1017:Labor Day 981:Prognosis 963:pacemaker 903:, rarely 809:Multiple 806:Multiple 735:Multiple 732:Multiple 613:At birth 601:Multiple 598:Multiple 492:Diagnosis 467:inherited 414:Scoliosis 322:Diltiazem 243:mutations 182:Prognosis 155:Treatment 60:Specialty 3220:Myotonia 3113:Duchenne 3108:Becker's 3071:Fukuyama 3033:Myotonic 2986:Myopathy 2881:Category 2842:(France) 2774:Myotonic 2740:Duchenne 2735:Becker's 2520:22172424 2477:22655510 2425:Archived 2406:Archived 2337:21912442 2263:23884013 2203:21245364 2154:22655512 2106:Archived 2082:10 April 2076:Archived 2024:Archived 2020:20301344 1985:20176601 1909:Archived 1887:27922500 1826:Archived 1797:Archived 1764:Omim.org 1746:21496636 1698:Archived 1669:Archived 1617:Archived 1596:31578361 1588:11879882 1539:10 April 1533:Archived 1487:Archived 1464:34066119 1413:29395990 1316:26140716 1257:26140716 1044:See also 1011:and the 967:myotonia 955:Orthoses 874:myotonia 504:(CpK3), 471:X-linked 330:seizures 298:Ataluren 290:Elevidys 85:Duration 72:Symptoms 3481:General 3346:Muscle 3076:Ullrich 2633:D009136 2542:Scholia 2511:3332154 2468:3440798 2435:website 2363:7 April 2328:3157948 2271:9990910 2194:3057042 2145:3440807 2072:NIH.gov 1993:2453622 1878:5898965 1529:NIH.gov 1455:8151418 1404:5889091 1307:4767260 1248:4767260 990:History 484:de novo 354:surgery 292:), and 257:during 171:surgery 124:Genetic 88:Chronic 3329:ATP2A1 2930:, and 2924:muscle 2747:Distal 2657:001190 2544:has a 2518:  2508:  2475:  2465:  2335:  2325:  2292:  2269:  2261:  2224:  2201:  2191:  2152:  2142:  2018:  1991:  1983:  1937:  1885:  1875:  1744:  1734:  1594:  1586:  1578:  1462:  1452:  1411:  1401:  1314:  1304:  1294:  1255:  1245:  1235:  965:. 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Index

Muscular Dystrophy

dystrophin
Specialty
Neuromuscular medicine
Symptoms
skeletal muscles
Duchenne muscular dystrophy
Becker muscular dystrophy
facioscapulohumeral muscular dystrophy
limb–girdle muscular dystrophy
myotonic dystrophy
Genetic
X-linked recessive
autosomal recessive
autosomal dominant
Diagnostic method
Genetic testing
Pharmacotherapy
physical therapy
braces
surgery
assisted ventilation
Prognosis
neuromuscular diseases
skeletal muscles
organs
Duchenne muscular dystrophy
Becker muscular dystrophy
facioscapulohumeral muscular dystrophy

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