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Year : 2008  |  Volume : 56  |  Issue : 3  |  Page : 248--253

Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation


1 Department of Neuropathology and Applied Biology, Medical Research Centre, Bombay Hospital Trust, Mumbai, India
2 Sundaram Medical Foundation, Dr. Rangarajan Memorial Hospital, Chennai, India
3 Department of Neurology, Bombay Hospital, Mumbai, India

Correspondence Address:
Jayshree J Nadkarni
Department of Neuropathology and Applied Biology, Medical Research Centre, Bombay Hospital Trust, New Marine Lines, Mumbai- 400 020
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.43442

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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.






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