Medical condition
Congenital muscular dystrophy |
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![](//upload.wikimedia.org/wikipedia/commons/thumb/f/f1/Autosomal_recessive_-_en.svg/220px-Autosomal_recessive_-_en.svg.png) |
Autosomal recessive is generally the manner in which CMD is inherited |
Specialty | Neurology ![Edit this on Wikidata](//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png) |
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Symptoms | Muscle weakness[1] |
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Types | 17 types of CMD[1] |
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Diagnostic method | NRI, EMG[2] |
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Treatment | Currently there's no cure; one should monitor cardiac function and respiratory function[3] |
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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 "Congenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY".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
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- ^ 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.