DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20185212

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

Shaik M. Rafi, Sravya S. Sreekantham, Kedarnath R. Tumati

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.


Keywords


Muscular dystrophy, Sarcoglycanopathy, SCARMD

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References


Sharma MC, Mannan R, Singh NG, Gulati S, Kalra V, Sarkar C. Sarcoglycanopathies: An enigmatic form of muscular dystrophy-A report of 7 cases. Neurol India. 2004;52(4):446-9.

Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C, Pegoraro E, et al. Mutations in the sarcoglycan genes in patients with myopathy. New England J Med. 1997;336(9):618-25.

Mustafa E, Khandaker MA, Rashid MM, Ghose SK, Salehin M, Hussain AR, et al. Sarcoglycanopathy-a rare case report and literature review. J Dhaka Med Coll. 2014;22(2):232-5.

Bushby KM. Making sense of the limb-girdle muscular dystrophies. Brain. 1999 ;122(8):1403-20.

Khadilkar Satish V, Menezes Krishe M, Singh Rakesh K, Hegde Madhuri R. Case Report-Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. Neurology India. 2006 ;54(3):293-5

Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle & Nerve: Official Journal of the American Association of Electrodiagnostic Medicine. 1998 ;21(4):421-38.

Khadilkar SV, Singh RK. Limb girdle muscular dystrophies in India. Neurol India. 2008 ;56(3):281.

Emery AE, Muntoni F, Quinlivan RC. Duchenne muscular dystrophy. OUP Oxford; 2015.

Kapoor S, Tatke M, Aggarwal S, Gupta A. Beta-sarcoglycanopathy. Indian J Pediatr. 2005;72(1):71-4.

Gulati S, Leekha S, Sharma MC, Kalra V. Gamma-sarcoglycanopathy. Indian pediatrics. 2003;40(11):1077-81.

Joshi S. Duchenne muscular dystrophy in a female child. Indian Pediatr. 2002;39(1):98.

Venugopal V, Pavlakis S. Duchenne Muscular Dystrophy. Stat Pearls. Treasure Island (FL): Statpearls Publishing. 2018.

Nahrel R, Kosam A. Duchenne muscular dystrophy in a female child with Turner syndrome: a case report. Int J Med Res Rev. 2014;2.