Literature DB >> 18974550

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

Jayshree J Nadkarni1, Rashna S Dastur, V Viswanathan, Pradnya S Gaitonde, Satish V Khadilkar.   

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.

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Year:  2008        PMID: 18974550     DOI: 10.4103/0028-3886.43442

Source DB:  PubMed          Journal:  Neurol India        ISSN: 0028-3886            Impact factor:   2.117


  5 in total

1.  Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding.

Authors:  Arun Sadasivan; Manjusha G Warrier; Kiran Polavarapu; Veeramani Preethish-Kumar; Meera G Nair; M S Keerthipriya; Seena Vengalil; John Vijay Sagar; Thomas Kishore; Atchayaram Nalini; Priya Treesa Thomas
Journal:  Indian J Palliat Care       Date:  2021-02-17

2.  A Rare Case Report of Neurodegenerative Disease: Duchenne Muscular Dystrophy in Two Male Siblings.

Authors:  B Suneja; E S Suneja; V K Adlakha; P Chandna
Journal:  Int J Clin Pediatr Dent       Date:  2015-08-11

3.  MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.

Authors:  Sekar Deepha; Seena Vengalil; Veeramani Preethish-Kumar; Kiran Polavarapu; Atchayaram Nalini; Narayanappa Gayathri; Meera Purushottam
Journal:  BMC Med Genet       Date:  2017-06-13       Impact factor: 2.103

4.  Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India.

Authors:  Lakshya J Basumatary; Marami Das; Munindra Goswami; Ashok K Kayal
Journal:  J Neurosci Rural Pract       Date:  2013-04

5.  Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India.

Authors:  Mandava V Rao; Gaurang M Sindhav; Jitendra J Mehta
Journal:  Ann Indian Acad Neurol       Date:  2014-07       Impact factor: 1.383

  5 in total

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