共 50 条
Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation
被引:12
|作者:
Nadkarni, Jayshree J.
[1
]
Dastur, Rashna S.
[1
]
Viswanathan, V.
[2
]
Gaitonde, Pradnya S.
[1
]
Khadilkar, Satish V.
[3
]
机构:
[1] Bombay Hosp Trust, Med Res Ctr, Dept Neuropathol & Appl Biol, Bombay 400020, Maharashtra, India
[2] Dr Rangarajan Mem Hosp, Sundaram Med Fdn, Madras, Tamil Nadu, India
[3] Bombay Hosp & Med Res Ctr, Dept Neurol, Bombay, Maharashtra, India
关键词:
Beckers muscular dystrophy;
Duchenne muscular dystrophy;
genetics;
rehabilitation;
D O I:
10.4103/0028-3886.43442
中图分类号:
Q189 [神经科学];
学科分类号:
071006 ;
摘要:
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 Beckers 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.
引用
收藏
页码:248 / 253
页数:6
相关论文