359:
37:
1344:
316:
1164:"National Guideline Clearinghouse | Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular and Electrodiagnostic Medicine"
160:
Characteristically, bilateral contractures of the proximal joints of the upper extremities (shoulder and elbows) and proximal joints of the lower extremities (hips and knees). Spine contractures in the form of progressive scoliosis occurs and occasionally contracture of neck musculature also known as
589:
Foley, A. Reghan; Mohassel, Payam; Donkervoort, Sandra; Bolduc, Véronique; Bönnemann, Carsten G. (January 31, 1993). "Collagen VI-Related
Dystrophies". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora JH; Gripp, Karen W.; Mirzaa, Ghayda M.; Amemiya, Anne
780:
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".
1253:
349:
Scoliosis, which is a sideways curve of the persons vertebrate, is determined by a variety of factors, including the degree (mild or severe), in which case if possible a brace might be used by the individual.
1186:
Hicks, D.; Lampe, A. K.; Laval, S. H.; Allamand, V.; Jimenez-Mallebrera, C.; Walter, M. C.; Muntoni, F.; Quijano-Roy, S.; Richard, P.; Straub, V.; Lochmuller, H.; Bushby, K. M. D. (16 November 2008).
292:
1390:
267:
901:
Reed, Umbertina Conti; Ferreira, Lucio Gobbo; Liu, Enna
Cristina; Resende, Maria Bernadete Dutra; Carvalho, Mary Souza; Marie, Suely Kazue; Scaff, Milberto (September 2005).
490:
1863:
373:
According to a review by
Bernardi, et al., cyclosporin A (CsA) used to treat collagen VI muscular dystrophies demonstrates a normalization of mitochondrial reaction to
2852:
342:
The prognosis of this sub-type of MD indicates that the affected individual may eventually have feeding difficulties. Surgery, at some point, might be an option for
2681:
816:
1383:
2952:
1834:
1376:
167:
Contractures can be associated with distal joint laxity of the upper extremities (wrists and fingers) and of the lower extremities (ankle and toes).
2117:
460:
2006:
2899:
669:
Bönnemann, Carsten G. (2011). "Chapter 5 - The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and
Bethlem myopathy".
1858:
629:"Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems"
2453:
2277:
427:
2267:
959:
491:"Ullrich congenital muscular dystrophy | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
2962:
1888:
1171:
2353:
1188:"Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue"
563:
323:
Treatment for
Ullrich congenital muscular dystrophy can consist of physical therapy and regular stretching to prevent and reduce
988:
498:
2496:
2112:
1547:
1504:
236:
may be mildly above normal. Other exams/methods to ascertain if the individual has
Ullrich congenital muscular dystrophy are:
2887:
1596:
1476:
1440:
858:
282:
2697:
Exaggerated cardiorespiratory response to exercise (tachycardia with tachypnea and/or hyperpnea (exercise hyperventilation))
1163:
534:
2474:
2358:
2337:
1999:
1265:
808:
605:
1368:
205:
COL6A1 plays an important part in maintaining the human body's integrity of various tissues. Alpha 1 subunit of type VI
2543:
1645:
1499:
880:
330:
Though cardiac complications are not a concern in this type of CMD, in regards to respiratory issues ventilation via a
2262:
1110:
686:
2458:
1761:
1992:
1829:
1749:
1584:
1537:
1494:
1452:
1420:
1416:
287:
2588:
2315:
1941:
1754:
1542:
391:
100:
1359:
1637:
1631:
1040:"Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies"
1327:
1017:
1984:
1589:
1557:
213:
2691:
2201:
2152:
2061:
452:
277:
952:"Congenital Muscular Dystrophy Treatment & Management: Medical Care, Surgical Care, Consultations"
2957:
2918:
2752:
2511:
2484:
2163:
1853:
1514:
1824:
1276:
1187:
145:
The presentation of
Ullrich congenital muscular dystrophy in an affected individual is as follows:
366:
In terms of possible research for
Ullrich congenital muscular dystrophy one source indicates that
2050:
1936:
903:"Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity"
2967:
2696:
2536:
2365:
2132:
2091:
1839:
1732:
1651:
1404:
304:
164:
118:
419:
2906:
2583:
2521:
1964:
1408:
307:
of UCDM, even in patients without finger contractures, Bethlem myopathy could be considered.
2894:
2676:
1777:
199:
951:
8:
2882:
2818:
2293:
1969:
1946:
1918:
1906:
1524:
1398:
217:
195:
126:
1349:
555:
2926:
2857:
2808:
2732:
2712:
2415:
2086:
1913:
1815:
1741:
1703:
1569:
1509:
1486:
1471:
1072:
1039:
754:
721:
697:
678:
386:
49:
2686:
2930:
2742:
2529:
2431:
2107:
2102:
1893:
1874:
1665:
1435:
1287:
1212:
1151:
1143:
1106:
1077:
1059:
980:
932:
924:
872:
864:
854:
759:
741:
702:
682:
648:
597:
229:
75:
919:
902:
129:, though cardiac issues are not associated with this type of CMD. It is named after
2701:
2382:
2226:
2128:
2077:
2032:
1923:
1623:
1617:
1202:
1133:
1067:
1051:
914:
846:
790:
749:
733:
692:
674:
640:
396:
300:
272:
228:
In terms of the diagnosis of
Ullrich congenital muscular dystrophy upon inspection
845:. Advances in Experimental Medicine and Biology. Vol. 802. pp. 185–199.
358:
2911:
2727:
2641:
2182:
1725:
1708:
1281:
1100:
850:
526:
251:
233:
149:
134:
122:
1055:
2841:
2803:
2722:
2671:
2651:
2646:
2624:
2479:
1848:
1843:
1801:
1713:
1292:
367:
299:
Phenotypes of overlap between
Ullrich congenital muscular dystrophy (UCMD) and
1316:
809:"COL6A1 collagen type VI alpha 1 [Homo sapiens (human)] - Gene - NCBI"
628:
327:. Respiratory support may be needed at some point by the affected individual.
2946:
2830:
2747:
2272:
2024:
1720:
1682:
1532:
1445:
1147:
1063:
928:
868:
745:
737:
652:
591:
838:
2788:
2600:
2578:
1900:
1659:
1216:
1207:
1155:
1081:
936:
876:
794:
763:
706:
601:
331:
130:
36:
2014:
2922:
2737:
2706:
2613:
2217:
1882:
1311:
324:
157:
114:
1245:
2866:
2847:
2771:
2766:
2655:
1670:
1578:
1429:
1120:
Carakushansky, Gerson; Ribeiro, Marcia Gonçalves; Kahn, Evelyn (2011).
644:
85:
44:
Autosomal recessive pattern is the inheritance manner of this condition
1138:
1121:
1010:"OMIM Entry - # 254090 - Ullrich Congenital Muscular Dystrophy; UCMD1"
527:"Phenotypic Series - PS254090 – Ullrich congenital muscular dystrophy"
2862:
343:
170:
182:
In terms of the genetics of UCMD1, there are mutations in the genes
2837:
2825:
2813:
2793:
2717:
2608:
2553:
2016:
1696:
1462:
1322:
374:
212:
In terms of the genetics of UCMD2, there are mutations in the gene
206:
154:
Difficulty walking (ambulation is typically lost by age 5–15 years)
107:
2762:
2692:
Inappropriate rapid heart rate response to exercise (tachycardia)
2573:
2445:
2020:
556:"Ullrich congenital muscular dystrophy - Conditions - GTR - NCBI"
1270:
1009:
110:, while UCMD2 is associated with variants of type XII collagen.
2757:
2557:
1805:
1400:
1257:
245:
191:
187:
183:
2551:
1122:"Moderately progressive Ullrich congenital muscular dystrophy"
1102:
Encyclopedia of Human Genetics and Disease [2 volumes]
588:
315:
2798:
2620:
2490:
722:"The collagen VI-related myopathies: muscle meets its matrix"
232:, may be a dermatological indicator, additionally also serum
779:
2565:
2253:
2192:
2173:
2143:
2041:
837:
Bushby, Kate M. D.; Collins, James; Hicks, Debbie (2014).
240:
70:
Mutations in the COL6A1, COL6A2, COL6A3, and COL12A1 gene
1119:
1185:
420:"Orphanet: Congenital muscular dystrophy, Ullrich type"
370:
might be of benefit to individuals with this CMD type.
900:
633:
Zeitschrift fĂĽr die gesamte Neurologie und Psychiatrie
843:
Progress in Heritable Soft Connective Tissue Diseases
1235:
836:
2944:
1037:
783:Journal of Musculoskeletal Surgery and Research
775:
773:
194:. This sub-type of muscular dystrophy is both
2953:Myoneural junction and neuromuscular diseases
2537:
2000:
1384:
106:UCMD1 is associated with variants of type VI
1038:Bernardi, Paolo; Bonaldo, Paolo (May 2013).
2278:Transient bullous dermolysis of the newborn
949:
770:
673:. Vol. 101. Elsevier. pp. 81–96.
664:
662:
2544:
2530:
2268:Recessive dystrophic epidermolysis bullosa
2007:
1993:
1391:
1377:
1044:Cold Spring Harbor Perspectives in Biology
830:
35:
1206:
1137:
1071:
918:
753:
719:
696:
668:
257:
659:
357:
314:
103:. There are two forms: UCMD1 and UCMD2.
626:
414:
412:
2945:
2113:Spondyloepiphyseal dysplasia congenita
2888:Fibrodysplasia ossificans progressiva
2525:
2394:Ullrich congenital muscular dystrophy
2238:Ullrich congenital muscular dystrophy
1988:
1372:
1360:Ullrich congenital muscular dystrophy
1098:
596:. University of Washington, Seattle.
584:
582:
580:
485:
483:
481:
479:
477:
450:
446:
444:
293:RYR1-associated multiminicore disease
140:
97:Ullrich congenital muscular dystrophy
22:Ullrich congenital muscular dystrophy
2475:Congenital stromal corneal dystrophy
720:Bönnemann, Carsten G. (2011-06-21).
608:from the original on August 13, 2020
521:
519:
517:
515:
409:
90:Physical therapy, Surgery(scoliosis)
2687:Dynamic symptoms (exercise-induced)
2359:Otospondylomegaepiphyseal dysplasia
2338:Schmid metaphyseal chondrodysplasia
531:Online Mendelian Inheritance in Man
13:
1652:BIN1-linked centronuclear myopathy
1317:Collagen Type VI-Related Disorders
1092:
679:10.1016/B978-0-08-045031-5.00005-0
577:
474:
441:
14:
2979:
2354:Weissenbacher–Zweymüller syndrome
2263:Epidermolysis bullosa dystrophica
2118:Spondyloepimetaphyseal dysplasia,
1933:Testosterone deficiency myopathy
1441:Lambert–Eaton myasthenic syndrome
1231:
512:
283:Emery–Dreifuss muscular dystrophy
113:UCMD is commonly associated with
2963:Diseases named after discoverers
2454:Junctional epidermolysis bullosa
1889:Kocher–Debre–Semelaigne syndrome
1538:Limb-girdle muscular dystrophy 2
1495:Limb-girdle muscular dystrophy 1
1342:
334:is a possibility in some cases.
268:Autosomal recessive myosclerosis
2459:Laryngoonychocutaneous syndrome
1099:Kelly, Evelyn B. (2013-01-07).
1031:
1020:from the original on 2015-12-24
1002:
991:from the original on 2016-05-14
973:
962:from the original on 2020-11-30
943:
920:10.1590/S0004-282X2005000500013
894:
883:from the original on 2024-07-05
819:from the original on 2016-08-21
801:
566:from the original on 2016-09-15
537:from the original on 2023-05-01
463:from the original on 2016-05-13
430:from the original on 2016-06-03
30:Scleroatonic muscular dystrophy
1830:Fatty-acid metabolism disorder
1453:Congenital myasthenic syndrome
713:
671:Handbook of Clinical Neurology
620:
548:
453:"collagen VI-related myopathy"
288:Limb-girdle muscular dystrophy
80:Physical exam, Medical history
1:
2316:Multiple epiphyseal dysplasia
1942:Hypogonadotropic hypogonadism
907:Arquivos de Neuro-Psiquiatria
839:"Collagen type VI myopathies"
627:Ullrich, O. (December 1930).
402:
392:Congenital muscular dystrophy
101:congenital muscular dystrophy
950:Emad R Noor (July 3, 2019).
851:10.1007/978-94-007-7893-1_12
337:
310:
223:
133:, who is also known for the
7:
1056:10.1101/cshperspect.a011387
380:
353:
177:
10:
2984:
451:Reference, Genetics Home.
2919:Pseudoathletic appearance
2875:
2781:
2753:Intermittent claudication
2664:
2634:
2599:
2564:
2507:
2467:
2444:
2424:
2408:
2375:
2346:
2330:
2308:
2286:
2252:
2216:
2191:
2172:
2142:
2076:
2040:
2031:
1957:
1919:Hyperparathyroid myopathy
1873:
1814:
1790:
1770:
1740:
1695:
1681:
1609:
1568:
1523:
1485:
1470:
1461:
1415:
1302:
1239:
726:Nature Reviews. Neurology
495:rarediseases.info.nih.gov
230:follicular hyperkeratosis
84:
74:
66:
58:
48:
43:
34:
26:
21:
1914:Hypoparathyroid myopathy
1825:Glycogen storage disease
981:"Scoliosis: MedlinePlus"
738:10.1038/nrneurol.2011.81
209:is the encoded protein.
2853:Rippling muscle disease
2051:Osteogenesis imperfecta
1937:Late-onset hypogonadism
1928:Corticosteroid myopathy
1646:adaptor protein disease
457:Genetics Home Reference
303:can be assumed. In the
135:Ullrich-Turner syndrome
2831:Muscle channelopathies
2682:Myogenic hyperuricemia
2366:Type XI collagenopathy
2202:Ehlers–Danlos syndrome
2153:Ehlers–Danlos syndrome
2133:Type II collagenopathy
2062:Ehlers–Danlos syndrome
1840:Mitochondrial myopathy
1733:Paramyotonia congenita
1405:neuromuscular junction
795:10.25259/JMSR_229_2023
363:
320:
305:differential diagnosis
278:Ehlers–Danlos syndrome
258:Differential diagnosis
2728:Hyperthyroid myopathy
2485:Urbach–Wiethe disease
2322:(types 2, 3, & 6)
2164:Sack–Barabas syndrome
2068:(types 1, 2, & 7)
1965:Inflammatory myopathy
1409:neuromuscular disease
361:
318:
2895:Compartment syndrome
2723:Hypothyroid myopathy
2713:Metabolic myopathies
2677:Exercise intolerance
2625:Hypothyroid myopathy
1778:Central core disease
1660:cytoskeleton disease
1208:10.1093/brain/awn289
813:www.ncbi.nlm.nih.gov
560:www.ncbi.nlm.nih.gov
127:respiratory problems
99:(UCMD) is a form of
2907:Diastasis of muscle
2883:Myositis ossificans
1970:Congenital myopathy
1947:Androgen deficiency
1907:Thyrotoxic myopathy
1505:Facioscapulohumeral
1126:Jornal de Pediatria
218:autosomal recessive
196:autosomal recessive
2927:Muscle hypertrophy
2923:Muscle hyperplasia
2858:Periodic paralysis
2809:Muscle contracture
2733:Hypoparathyroidism
2416:Bullous pemphigoid
2087:Hypochondrogenesis
1816:Metabolic myopathy
1742:Periodic paralysis
1704:Myotonia congenita
1472:Muscular dystrophy
1303:External resources
645:10.1007/BF02864097
387:Muscular dystrophy
364:
321:
200:autosomal dominant
171:Fatty infiltration
141:Signs and symptoms
2940:
2939:
2931:Pseudohypertrophy
2782:Abnormal movement
2665:Low ATP reservoir
2519:
2518:
2440:
2439:
2432:Knobloch syndrome
2208:(types 1 & 2)
2159:(types 3 & 4)
2108:Marshall syndrome
2103:Stickler syndrome
1982:
1981:
1978:
1977:
1894:Hoffmann syndrome
1786:
1785:
1666:Nemaline myopathy
1605:
1604:
1436:Myasthenia gravis
1337:
1336:
1168:www.guideline.gov
1139:10.2223/JPED.2112
860:978-94-007-7892-4
94:
93:
76:Diagnostic method
16:Medical condition
2975:
2958:Collagen disease
2702:Hitting the wall
2546:
2539:
2532:
2523:
2522:
2512:fibrous proteins
2497:DFNA8/12, DFNB21
2401:
2398:
2390:
2387:
2383:Bethlem myopathy
2363:
2323:
2320:
2301:
2298:
2294:Fuchs' dystrophy
2245:
2242:
2234:
2231:
2227:Bethlem myopathy
2209:
2206:
2160:
2157:
2129:Kniest dysplasia
2124:
2123:(Strudwick type)
2121:
2098:
2095:
2069:
2066:
2058:
2055:
2038:
2037:
2033:Collagen disease
2009:
2002:
1995:
1986:
1985:
1924:Hypercortisolism
1835:AMPD1 deficiency
1791:ATPase disorder
1693:
1692:
1624:Bethlem myopathy
1618:collagen disease
1610:Other structural
1483:
1482:
1468:
1467:
1421:junction disease
1393:
1386:
1379:
1370:
1369:
1346:
1345:
1237:
1236:
1227:
1225:
1223:
1210:
1192:
1182:
1180:
1179:
1170:. Archived from
1159:
1141:
1116:
1086:
1085:
1075:
1035:
1029:
1028:
1026:
1025:
1006:
1000:
999:
997:
996:
977:
971:
970:
968:
967:
947:
941:
940:
922:
898:
892:
891:
889:
888:
834:
828:
827:
825:
824:
805:
799:
798:
777:
768:
767:
757:
717:
711:
710:
700:
666:
657:
656:
624:
618:
617:
615:
613:
586:
575:
574:
572:
571:
552:
546:
545:
543:
542:
523:
510:
509:
507:
506:
497:. Archived from
487:
472:
471:
469:
468:
448:
439:
438:
436:
435:
416:
397:Bethlem myopathy
301:Bethlem myopathy
273:Bethlem myopathy
39:
19:
18:
2983:
2982:
2978:
2977:
2976:
2974:
2973:
2972:
2943:
2942:
2941:
2936:
2912:Diastasis recti
2871:
2838:Pseudo-myotonia
2777:
2660:
2642:Muscle weakness
2630:
2595:
2560:
2550:
2520:
2515:
2503:
2463:
2436:
2420:
2404:
2399:
2396:
2388:
2385:
2371:
2361:
2342:
2326:
2321:
2318:
2304:
2299:
2296:
2282:
2248:
2243:
2240:
2232:
2229:
2212:
2207:
2204:
2187:
2183:Alport syndrome
2168:
2158:
2155:
2138:
2122:
2119:
2096:
2093:
2092:Achondrogenesis
2072:
2067:
2064:
2056:
2053:
2027:
2013:
1983:
1974:
1953:
1869:
1810:
1782:
1766:
1736:
1726:Isaacs syndrome
1709:Thomsen disease
1677:
1601:
1564:
1519:
1500:Oculopharyngeal
1474:
1457:
1419:
1411:
1397:
1367:
1366:
1365:
1347:
1343:
1338:
1333:
1332:
1298:
1297:
1248:
1234:
1221:
1219:
1190:
1177:
1175:
1162:
1113:
1095:
1093:Further reading
1090:
1089:
1036:
1032:
1023:
1021:
1008:
1007:
1003:
994:
992:
985:www.nlm.nih.gov
979:
978:
974:
965:
963:
948:
944:
913:(3b): 785–790.
899:
895:
886:
884:
861:
835:
831:
822:
820:
807:
806:
802:
778:
771:
718:
714:
689:
667:
660:
625:
621:
611:
609:
587:
578:
569:
567:
554:
553:
549:
540:
538:
525:
524:
513:
504:
502:
489:
488:
475:
466:
464:
449:
442:
433:
431:
418:
417:
410:
405:
383:
356:
340:
319:Scoliosis X-ray
313:
297:
260:
252:Genetic testing
234:creatine kinase
226:
180:
165:Joint looseness
150:Muscle weakness
143:
123:muscle weakness
54:Muscle weakness
17:
12:
11:
5:
2981:
2971:
2970:
2965:
2960:
2955:
2938:
2937:
2935:
2934:
2916:
2915:
2914:
2904:
2903:
2902:
2892:
2891:
2890:
2879:
2877:
2873:
2872:
2870:
2869:
2860:
2855:
2850:
2845:
2842:Brody myopathy
2835:
2834:
2833:
2823:
2822:
2821:
2816:
2806:
2804:Fasciculations
2801:
2796:
2791:
2785:
2783:
2779:
2778:
2776:
2775:
2769:
2760:
2755:
2750:
2745:
2743:Hypoxic muscle
2740:
2735:
2730:
2725:
2720:
2715:
2709:
2704:
2699:
2694:
2689:
2684:
2679:
2674:
2672:Muscle fatigue
2668:
2666:
2662:
2661:
2659:
2658:
2652:Muscle atrophy
2649:
2647:Rhabdomyolysis
2644:
2638:
2636:
2632:
2631:
2629:
2628:
2618:
2617:
2616:
2605:
2603:
2597:
2596:
2594:
2593:
2592:
2591:
2586:
2581:
2570:
2568:
2562:
2561:
2549:
2548:
2541:
2534:
2526:
2517:
2516:
2508:
2505:
2504:
2502:
2501:
2500:
2499:
2487:
2482:
2480:Raine syndrome
2477:
2471:
2469:
2465:
2464:
2462:
2461:
2456:
2450:
2448:
2442:
2441:
2438:
2437:
2435:
2434:
2428:
2426:
2422:
2421:
2419:
2418:
2412:
2410:
2406:
2405:
2403:
2402:
2391:
2379:
2377:
2373:
2372:
2370:
2369:
2356:
2350:
2348:
2344:
2343:
2341:
2340:
2334:
2332:
2328:
2327:
2325:
2324:
2312:
2310:
2306:
2305:
2303:
2302:
2290:
2288:
2284:
2283:
2281:
2280:
2275:
2270:
2265:
2259:
2257:
2250:
2249:
2247:
2246:
2235:
2223:
2221:
2214:
2213:
2211:
2210:
2198:
2196:
2189:
2188:
2186:
2185:
2179:
2177:
2170:
2169:
2167:
2166:
2161:
2149:
2147:
2140:
2139:
2137:
2136:
2126:
2115:
2110:
2105:
2100:
2089:
2083:
2081:
2074:
2073:
2071:
2070:
2059:
2047:
2045:
2035:
2029:
2028:
2025:scleroproteins
2012:
2011:
2004:
1997:
1989:
1980:
1979:
1976:
1975:
1973:
1972:
1967:
1961:
1959:
1955:
1954:
1952:
1951:
1950:
1949:
1944:
1939:
1931:
1930:
1929:
1921:
1916:
1911:
1910:
1909:
1898:
1897:
1896:
1891:
1879:
1877:
1875:Endocrinopathy
1871:
1870:
1868:
1867:
1861:
1856:
1851:
1846:
1837:
1832:
1827:
1820:
1818:
1812:
1811:
1809:
1799:
1797:
1796:
1795:
1788:
1787:
1784:
1783:
1781:
1780:
1774:
1772:
1768:
1767:
1765:
1764:
1759:
1758:
1757:
1746:
1744:
1738:
1737:
1735:
1730:
1729:
1728:
1718:
1717:
1716:
1714:Becker disease
1711:
1701:
1699:
1690:
1689:
1688:
1679:
1678:
1676:
1675:
1674:
1673:
1668:
1656:
1655:
1654:
1642:
1641:
1640:
1628:
1627:
1626:
1613:
1611:
1607:
1606:
1603:
1602:
1600:
1599:
1597:Emery–Dreifuss
1594:
1593:
1592:
1587:
1574:
1572:
1566:
1565:
1563:
1562:
1561:
1560:
1558:Walker–Warburg
1555:
1550:
1540:
1535:
1529:
1527:
1521:
1520:
1518:
1517:
1512:
1507:
1502:
1497:
1491:
1489:
1480:
1465:
1459:
1458:
1456:
1455:
1450:
1449:
1448:
1443:
1438:
1425:
1423:
1417:Neuromuscular-
1413:
1412:
1396:
1395:
1388:
1381:
1373:
1348:
1341:
1340:
1339:
1335:
1334:
1331:
1330:
1319:
1307:
1306:
1304:
1300:
1299:
1296:
1295:
1284:
1273:
1262:
1249:
1244:
1243:
1241:
1240:Classification
1233:
1232:External links
1230:
1229:
1228:
1201:(1): 147–155.
1183:
1160:
1117:
1111:
1094:
1091:
1088:
1087:
1050:(5). a011387.
1030:
1001:
972:
942:
893:
859:
829:
800:
769:
732:(7): 379–390.
712:
687:
658:
639:(1): 171–201.
619:
576:
547:
511:
473:
440:
407:
406:
404:
401:
400:
399:
394:
389:
382:
379:
368:cyclosporine A
355:
352:
339:
336:
312:
309:
296:
295:
290:
285:
280:
275:
270:
264:
262:This includes
259:
256:
255:
254:
249:
243:
225:
222:
179:
176:
175:
174:
168:
162:
155:
152:
142:
139:
92:
91:
88:
82:
81:
78:
72:
71:
68:
64:
63:
60:
56:
55:
52:
46:
45:
41:
40:
32:
31:
28:
24:
23:
15:
9:
6:
4:
3:
2:
2980:
2969:
2968:Rare diseases
2966:
2964:
2961:
2959:
2956:
2954:
2951:
2950:
2948:
2932:
2928:
2924:
2920:
2917:
2913:
2910:
2909:
2908:
2905:
2901:
2898:
2897:
2896:
2893:
2889:
2886:
2885:
2884:
2881:
2880:
2878:
2874:
2868:
2864:
2861:
2859:
2856:
2854:
2851:
2849:
2846:
2843:
2839:
2836:
2832:
2829:
2828:
2827:
2824:
2820:
2817:
2815:
2812:
2811:
2810:
2807:
2805:
2802:
2800:
2797:
2795:
2792:
2790:
2787:
2786:
2784:
2780:
2773:
2770:
2768:
2764:
2761:
2759:
2756:
2754:
2751:
2749:
2748:Pseudohypoxia
2746:
2744:
2741:
2739:
2736:
2734:
2731:
2729:
2726:
2724:
2721:
2719:
2716:
2714:
2710:
2708:
2705:
2703:
2700:
2698:
2695:
2693:
2690:
2688:
2685:
2683:
2680:
2678:
2675:
2673:
2670:
2669:
2667:
2663:
2657:
2653:
2650:
2648:
2645:
2643:
2640:
2639:
2637:
2633:
2626:
2622:
2619:
2615:
2612:
2611:
2610:
2607:
2606:
2604:
2602:
2598:
2590:
2589:Delayed onset
2587:
2585:
2582:
2580:
2577:
2576:
2575:
2572:
2571:
2569:
2567:
2563:
2559:
2555:
2552:Symptoms and
2547:
2542:
2540:
2535:
2533:
2528:
2527:
2524:
2514:
2513:
2506:
2498:
2495:
2494:
2493:
2492:
2488:
2486:
2483:
2481:
2478:
2476:
2473:
2472:
2470:
2466:
2460:
2457:
2455:
2452:
2451:
2449:
2447:
2443:
2433:
2430:
2429:
2427:
2423:
2417:
2414:
2413:
2411:
2407:
2395:
2392:
2384:
2381:
2380:
2378:
2374:
2367:
2360:
2357:
2355:
2352:
2351:
2349:
2345:
2339:
2336:
2335:
2333:
2329:
2317:
2314:
2313:
2311:
2307:
2295:
2292:
2291:
2289:
2285:
2279:
2276:
2274:
2273:Bart syndrome
2271:
2269:
2266:
2264:
2261:
2260:
2258:
2255:
2251:
2239:
2236:
2228:
2225:
2224:
2222:
2219:
2215:
2203:
2200:
2199:
2197:
2194:
2190:
2184:
2181:
2180:
2178:
2175:
2171:
2165:
2162:
2154:
2151:
2150:
2148:
2145:
2141:
2134:
2130:
2127:
2125:
2116:
2114:
2111:
2109:
2106:
2104:
2101:
2099:
2090:
2088:
2085:
2084:
2082:
2079:
2075:
2063:
2060:
2052:
2049:
2048:
2046:
2043:
2039:
2036:
2034:
2030:
2026:
2022:
2018:
2010:
2005:
2003:
1998:
1996:
1991:
1990:
1987:
1971:
1968:
1966:
1963:
1962:
1960:
1956:
1948:
1945:
1943:
1940:
1938:
1935:
1934:
1932:
1927:
1926:
1925:
1922:
1920:
1917:
1915:
1912:
1908:
1905:
1904:
1902:
1899:
1895:
1892:
1890:
1887:
1886:
1884:
1881:
1880:
1878:
1876:
1872:
1865:
1862:
1860:
1857:
1855:
1852:
1850:
1847:
1845:
1841:
1838:
1836:
1833:
1831:
1828:
1826:
1822:
1821:
1819:
1817:
1813:
1807:
1803:
1802:Brody disease
1800:
1798:
1793:
1792:
1789:
1779:
1776:
1775:
1773:
1769:
1763:
1760:
1756:
1753:
1752:
1751:
1748:
1747:
1745:
1743:
1739:
1734:
1731:
1727:
1724:
1723:
1722:
1721:Neuromyotonia
1719:
1715:
1712:
1710:
1707:
1706:
1705:
1702:
1700:
1698:
1694:
1691:
1687:(ion channel)
1686:
1685:
1684:
1683:Channelopathy
1680:
1672:
1669:
1667:
1664:
1663:
1662:
1661:
1657:
1653:
1650:
1649:
1648:
1647:
1643:
1639:
1636:
1635:
1634:
1633:
1629:
1625:
1622:
1621:
1620:
1619:
1615:
1614:
1612:
1608:
1598:
1595:
1591:
1588:
1586:
1583:
1582:
1581:
1580:
1576:
1575:
1573:
1571:
1567:
1559:
1556:
1554:
1551:
1549:
1546:
1545:
1544:
1541:
1539:
1536:
1534:
1533:Calpainopathy
1531:
1530:
1528:
1526:
1522:
1516:
1515:Distal (most)
1513:
1511:
1508:
1506:
1503:
1501:
1498:
1496:
1493:
1492:
1490:
1488:
1484:
1481:
1478:
1473:
1469:
1466:
1464:
1460:
1454:
1451:
1447:
1446:Neuromyotonia
1444:
1442:
1439:
1437:
1434:
1433:
1432:
1431:
1427:
1426:
1424:
1422:
1418:
1414:
1410:
1406:
1402:
1394:
1389:
1387:
1382:
1380:
1375:
1374:
1371:
1363:
1362:
1361:
1355:
1351:
1329:
1325:
1324:
1320:
1318:
1314:
1313:
1309:
1308:
1305:
1301:
1294:
1290:
1289:
1285:
1283:
1279:
1278:
1274:
1272:
1268:
1267:
1263:
1260:
1259:
1255:
1251:
1250:
1247:
1242:
1238:
1218:
1214:
1209:
1204:
1200:
1196:
1189:
1184:
1174:on 2016-04-08
1173:
1169:
1165:
1161:
1157:
1153:
1149:
1145:
1140:
1135:
1131:
1127:
1123:
1118:
1114:
1112:9780313387142
1108:
1104:
1103:
1097:
1096:
1083:
1079:
1074:
1069:
1065:
1061:
1057:
1053:
1049:
1045:
1041:
1034:
1019:
1015:
1011:
1005:
990:
986:
982:
976:
961:
957:
953:
946:
938:
934:
930:
926:
921:
916:
912:
908:
904:
897:
882:
878:
874:
870:
866:
862:
856:
852:
848:
844:
840:
833:
818:
814:
810:
804:
796:
792:
788:
784:
776:
774:
765:
761:
756:
751:
747:
743:
739:
735:
731:
727:
723:
716:
708:
704:
699:
694:
690:
688:9780080450315
684:
680:
676:
672:
665:
663:
654:
650:
646:
642:
638:
635:(in German).
634:
630:
623:
607:
603:
599:
595:
594:
585:
583:
581:
565:
561:
557:
551:
536:
532:
528:
522:
520:
518:
516:
501:on 2016-06-10
500:
496:
492:
486:
484:
482:
480:
478:
462:
458:
454:
447:
445:
429:
425:
424:www.orpha.net
421:
415:
413:
408:
398:
395:
393:
390:
388:
385:
384:
378:
376:
371:
369:
362:Cyclosporin-A
360:
351:
347:
345:
335:
333:
328:
326:
317:
308:
306:
302:
294:
291:
289:
286:
284:
281:
279:
276:
274:
271:
269:
266:
265:
263:
253:
250:
247:
244:
242:
239:
238:
237:
235:
231:
221:
219:
215:
210:
208:
203:
201:
197:
193:
189:
185:
172:
169:
166:
163:
159:
156:
153:
151:
148:
147:
146:
138:
136:
132:
128:
124:
120:
116:
111:
109:
104:
102:
98:
89:
87:
83:
79:
77:
73:
69:
65:
61:
57:
53:
51:
47:
42:
38:
33:
29:
25:
20:
2799:Muscle spasm
2789:Muscle cramp
2601:Inflammation
2579:Fibromyalgia
2556:relating to
2509:
2489:
2393:
2237:
2057:(types I–IV)
2015:Diseases of
1901:Hyperthyroid
1762:Hyperkalemic
1658:
1644:
1638:X-linked MTM
1630:
1616:
1577:
1552:
1428:
1399:Diseases of
1358:
1357:
1356:profile for
1353:
1321:
1310:
1286:
1275:
1264:
1252:
1220:. Retrieved
1198:
1194:
1176:. Retrieved
1172:the original
1167:
1132:(1): 93–96.
1129:
1125:
1105:. ABC-CLIO.
1101:
1047:
1043:
1033:
1022:. Retrieved
1013:
1004:
993:. Retrieved
984:
975:
964:. Retrieved
955:
945:
910:
906:
896:
885:. Retrieved
842:
832:
821:. Retrieved
812:
803:
786:
782:
729:
725:
715:
670:
636:
632:
622:
612:November 11,
610:. Retrieved
593:GeneReviews®
592:
568:. Retrieved
559:
550:
539:. Retrieved
530:
503:. Retrieved
499:the original
494:
465:. Retrieved
456:
432:. Retrieved
423:
372:
365:
348:
341:
332:tracheostomy
329:
325:contractures
322:
298:
261:
227:
211:
204:
181:
161:torticollis.
158:Contractures
144:
131:Otto Ullrich
119:joint laxity
115:contractures
112:
105:
96:
95:
62:UCMD1, UCMD2
2738:Hypokalemia
2707:Second wind
2635:Destruction
2614:Pyomyositis
1883:Hypothyroid
1750:Hypokalemic
1632:PTP disease
1312:GeneReviews
202:in nature.
27:Other names
2947:Categories
2867:Hypertonia
2848:Spasticity
2772:Alcoholism
2767:Starvation
2656:Amyotrophy
2554:conditions
2023:and other
1794:(ion pump)
1755:Thyrotoxic
1671:Zaspopathy
1579:dystrophin
1543:Congenital
1430:autoimmune
1288:DiseasesDB
1178:2016-05-12
1024:2016-05-12
995:2016-05-12
966:2019-09-04
887:2024-07-05
823:2016-05-11
570:2016-05-11
541:2023-05-01
505:2016-05-11
467:2016-05-11
434:2016-05-11
403:References
86:Medication
2863:Hypotonia
2510:see also
1903:myopathy
1885:myopathy
1148:0021-7557
1064:1943-0264
929:0004-282X
869:0065-2598
789:: 11–23.
746:1759-4758
653:0303-4194
344:scoliosis
338:Prognosis
311:Treatment
224:Diagnosis
216:, and is
173:of muscle
2900:Anterior
2826:Myotonia
2819:Adhesion
2814:Fibrosis
2794:Myokymia
2718:Diabetes
2621:Myoedema
2609:Myositis
2400:(type 2)
2389:(type 2)
2300:(type 1)
2244:(type 1)
2233:(type 1)
2097:(type 2)
2017:collagen
1697:Myotonia
1590:Duchenne
1585:Becker's
1548:Fukuyama
1510:Myotonic
1463:Myopathy
1323:Orphanet
1217:19015158
1156:22016142
1082:23580791
1018:Archived
1014:omim.org
989:Archived
960:Archived
956:Medscape
937:16258657
881:Archived
877:24443028
817:Archived
764:21691338
707:21496625
606:Archived
602:20301676
590:(eds.).
564:Archived
535:Archived
461:Archived
428:Archived
381:See also
375:rotenone
354:Research
207:collagen
178:Genetics
108:collagen
50:Symptoms
2763:Fasting
2574:Myalgia
2446:Laminin
2021:laminin
1958:General
1823:Muscle
1553:Ullrich
1350:Scholia
1282:C537521
1261:: G71.2
1073:3632061
755:5210181
698:5207779
214:COL12A1
2758:Scurvy
2558:muscle
2425:COL18:
2409:COL17:
2397:
2386:
2376:COL12:
2362:
2347:COL11:
2331:COL10:
2319:
2297:
2241:
2230:
2205:
2156:
2120:
2094:
2065:
2054:
1806:ATP2A1
1407:, and
1401:muscle
1352:has a
1271:254090
1222:12 May
1215:
1154:
1146:
1109:
1080:
1070:
1062:
935:
927:
875:
867:
857:
762:
752:
744:
705:
695:
685:
651:
600:
248:muscle
246:Biopsy
192:COL6A3
190:, and
188:COL6A2
184:COL6A1
67:Causes
2876:Other
2584:Acute
2491:TECTA
2468:Other
2309:COL9:
2287:COL8:
1864:MNGIE
1849:MERRF
1844:MELAS
1771:Other
1354:topic
1328:75840
1293:33679
1195:Brain
1191:(PDF)
59:Types
2566:Pain
2254:COL7
2218:COL6
2193:COL5
2174:COL4
2144:COL3
2078:COL2
2042:COL1
1477:DAPC
1277:MeSH
1266:OMIM
1224:2016
1213:PMID
1152:PMID
1144:ISSN
1107:ISBN
1078:PMID
1060:ISSN
933:PMID
925:ISSN
873:PMID
865:ISSN
855:ISBN
760:PMID
742:ISSN
703:PMID
683:ISBN
649:ISSN
614:2012
598:PMID
198:and
125:and
1859:PEO
1854:KSS
1254:ICD
1203:doi
1199:132
1134:doi
1068:PMC
1052:doi
915:doi
847:doi
791:doi
750:PMC
734:doi
693:PMC
675:doi
641:doi
637:126
241:MRI
2949::
2929:/
2925:/
2865:/
2765:/
2019:,
1570:XR
1525:AR
1487:AD
1403:,
1326::
1315::
1291::
1280::
1269::
1258:10
1211:.
1197:.
1193:.
1166:.
1150:.
1142:.
1130:88
1128:.
1124:.
1076:.
1066:.
1058:.
1046:.
1042:.
1016:.
1012:.
987:.
983:.
958:.
954:.
931:.
923:.
911:63
909:.
905:.
879:.
871:.
863:.
853:.
841:.
815:.
811:.
785:.
772:^
758:.
748:.
740:.
728:.
724:.
701:.
691:.
681:.
661:^
647:.
631:.
604:.
579:^
562:.
558:.
533:.
529:.
514:^
493:.
476:^
459:.
455:.
443:^
426:.
422:.
411:^
377:.
346:.
220:.
186:,
137:.
121:,
117:,
2933:)
2921:(
2844:)
2840:(
2774:)
2711:(
2654:/
2627:)
2623:(
2545:e
2538:t
2531:v
2368:)
2364:(
2256::
2220::
2195::
2176::
2146::
2135:)
2131:(
2080::
2044::
2008:e
2001:t
1994:v
1866:)
1842:(
1808:)
1804:(
1479:)
1475:(
1392:e
1385:t
1378:v
1364:.
1256:-
1246:D
1226:.
1205::
1181:.
1158:.
1136::
1115:.
1084:.
1054::
1048:5
1027:.
998:.
969:.
939:.
917::
890:.
849::
826:.
797:.
793::
787:8
766:.
736::
730:7
709:.
677::
655:.
643::
616:.
573:.
544:.
508:.
470:.
437:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
