Nadkarni Jayshree J, Dastur Rashna S, Viswanathan V, Gaitonde Pradnya S, Khadilkar Satish V
Department of Neuropathology, Medical Research Centre, Bombay Hospital Trust, Mumbai, India.
Neurol India. 2008 Jul-Sep;56(3):248-53. doi: 10.4103/0028-3886.43442.
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.
