Duchenne and Becker muscular dystrophies: an Indian update on genetics and rehabilitation.

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.

journal_name

Neurol India

journal_title

Neurology India

authors

Nadkarni JJ,Dastur RS,Viswanathan V,Gaitonde PS,Khadilkar SV

doi

10.4103/0028-3886.43442

subject

Has Abstract

pub_date

2008-07-01 00:00:00

pages

248-53

issue

3

eissn

0028-3886

issn

1998-4022

journal_volume

56

pub_type

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