Duchenne Muscular Dystrophy- Where Genetic Testing is Inevitable and Vital!

Excerpt

Duchenne Muscular Dystrophy (DMD), an X-linked recessive disorder, is the most common and severe neuromuscular disorder affecting about 1 in 5000 males. The phenotype of dystrophinopathies depends on whether mutation leads to disruption of or maintenance of the “open reading frame (ORF)”, the former resulting in severe disease. The types of mutations in DMD include deletions (65%), duplications (6–10%), point mutations (25%), and complex mutations (<2%) [1]. Kohli S and colleagues have described a similar mutation spectrum of 1660 Indian DMD/ Becker muscular dystrophy (BMD) patients [2]. They identified exonic deletions and duplications in 1090 (65.7%) and 98 (5.9%) respectively. Among the 68 nondeletion/duplication cases tested, 50% had a nonsense mutation. …