Female child presenting with Duchenne muscular dystrophy like phenotype: severe childhood autosomal recessive muscular dystrophy: a rare case report

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dc.contributor.authorRafi, Shaik M.en_US
dc.contributor.authorSreekantham, Sravya S.en_US
dc.contributor.authorTumati, Kedarnath R.en_US
dc.date.accessioned2020-09-24T07:42:50Z
dc.date.available2020-09-24T07:42:50Z
dc.date.issued2019-01
dc.description.abstractSevere 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.en_US
dc.identifier.affiliationsDepartment of Pediatrics, Narayana Medical College, Nellore, Andhra Pradesh, Indiaen_US
dc.identifier.citationRafi 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): 212-214en_US
dc.identifier.issn2349-3283
dc.identifier.issn2349-3291
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/203876
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber1en_US
dc.relation.volume6en_US
dc.source.urihttps://dx.doi.org/10.18203/2349-3291.ijcp20185212en_US
dc.subjectMuscular dystrophyen_US
dc.subjectSarcoglycanopathyen_US
dc.subjectSCARMDen_US
dc.titleFemale child presenting with Duchenne muscular dystrophy like phenotype: severe childhood autosomal recessive muscular dystrophy: a rare case reporten_US
dc.typeJournal Articleen_US
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