Female child presenting with Duchenne muscular dystrophy like phenotype: severe childhood autosomal recessive muscular dystrophy: a rare case report
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Date
2019-01
Journal Title
Journal ISSN
Volume Title
Publisher
Medip Academy
Abstract
Severe Childhood Autosomal Recessive Muscular Dystrophy (SCARMD) is a variant of sarcoglycanopathy resulting from mutation in the sarcoglycan genes. SCARMD is a rare form of muscular dystrophy characterised by severe DMD like phenotype occurring at early ages and affecting boys as well as girls. Here we are reporting a case of 7year old female child born to 3rd degree consanguineous parents presented with proximal muscle weakness beginning in both lower limbs since4 years of age. On thorough clinical examination and laboratory evaluation child turned out to be SCARMD. Hence this case report emphasizes that suspicion of SCARMD has to be made when female children presented with features of DMD, and genetic counselling and prenatal diagnosis should be done to reduce the burden of the disease in the community.
Description
Keywords
Muscular dystrophy, Sarcoglycanopathy, SCARMD
Citation
Rafi Shaik M., Sreekantham Sravya S., Tumati Kedarnath R.. Female child presenting with Duchenne muscular dystrophy like phenotype: severe childhood autosomal recessive muscular dystrophy: a rare case report. International Journal of Contemporary Pediatrics. 2019 Jan; 6(1): 212-214