DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20211094

Duchenne muscular dystrophy in a female with x-autosome translocation

Anuradha Sanadhya, Ritvika Jyani, Suresh Goyal, Neha Asora, Mukesh Kumar Gurjar

Abstract


Duchenne’s muscular dystrophy is the most common hereditary neuromuscular disease, which affects all races. Its classical characteristic clinical features being progressive muscular weakness, intellectual impairment and hypertrophy of the calves with proliferation of connective tissue and progressive fibrosis in muscles. As the disease is inherited as an X-linked recessive trait, thus females not manifesting the disease and acting as carriers only, as second X chromosome prevents the manifestation of disease. We report a case of classical Duchenne muscular dystrophy in 10 year old female with no intellectual deficit and no family history of similar type of muscular dystrophy.


Keywords


Muscular dystrophy, X linked recessive, translocation, autosome

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References


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