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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 1998-4022
Vol. 56, No. 3, 2008, pp. 248-253
Bioline Code: ni08074
Full paper language: English
Document type: Review Article
Document available free of charge

Neurology India, Vol. 56, No. 3, 2008, pp. 248-253

 en Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation
Nadkarni, Jayshree J.; Dastur, Rashna S.; Viswanathan, V.; Gaitonde, Pradnya S. & Khadilkar, Satish V.

Abstract

The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families with Duchenne and Becker muscular dystrophy (D/BMD) in India. The prediction of Duchenne muscular dystrophy (DMD) patients to have out-framed deletions and Becker′s muscular dystrophy (BMD) patients to have in-frame deletions of dystrophin gene holds well in the vast majority of cases. Mutation detection is obviously critical for diagnosis but it may also be important for future therapeutic purposes. These factors underscore the need for earlier referral, genetic counseling and provision of support and rehabilitation services which are the main priorities for psychosocial assessment and intervention at medical and social levels.

Keywords
Becker′s muscular dystrophy, Duchenne muscular dystrophy, genetics, rehabilitation

 
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