Back حثل عضلي خلقي Arabic Kongenitalna mišićna distrofija BS Distròfia muscular congènita Catalan Kongenitale Muskeldystrophie German Distrofia muscular congénita Spanish Dystrophies musculaires congénitales French 先天性筋ジストロフィー Japanese Вродена мускулна дистрофија Macedonian Distrofia muscular congénita Portuguese Kongenital muskeldystrofi Swedish
| Congenital muscular dystrophy | |
|---|---|
 | |
| Autosomal recessive is generally the manner in which CMD is inherited | |
| Specialty | Neurology  |
| Symptoms | Muscle weakness[1] |
| Types | 17 types of CMD[1] |
| Diagnostic method | NRI, EMG[2] |
| Treatment | Currently there's no cure; one should monitor cardiac function and respiratory function[3] |
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.[1][4]
- ^ a b c Sparks, Susan; Quijano-Roy, Susana; Harper, Amy; Rutkowski, Anne; Gordon, Erynn; Hoffman, Eric P.; Pegoraro, Elena (1993-01-01). "Congenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Congenital Muscular Dystrophy Overview. Seattle (WA): University of Washington, Seattle. PMID 20301468. Archived from the original on 2020-08-04. Retrieved 2017-08-30.update 2012
- ^ Cite error: The named reference
medwas invoked but never defined (see the help page). - ^ Cite error: The named reference
emedwas invoked but never defined (see the help page). - ^ Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (2011-12-01). "Congenital Muscular Dystrophies: A Brief Review". Seminars in Pediatric Neurology. 18 (4): 277–288. doi:10.1016/j.spen.2011.10.010. ISSN 1071-9091. PMC 3332154. PMID 22172424.