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.