BACKGROUND Duchenne muscular dystrophy is one of the most severe muscle diseases to affect children. In the last twenty years, treatments have been established that have significantly improved patients' quality of life and life expectancy. The purpose of this article is to outline the main features of the disease and its treatment, and to examine possible future treatment options. METHOD The ...

Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction in muscle mass and function. There is evidence from dystrophin-deficient mouse models that increasing levels of utrophin at the muscle fibre s...

(all multiplex PCRs are amplified in ϳ2.5 h, and the capillary gel electrophoresis of the pooled PCR products takes ϳ30 min), easy to perform, detects ϳ99% patients with macrodeletions and 89% with macrodupli-cations, and identifies small insertions or deletions. In conclusion, this method detects Ͼ70% of mutations in DMD/BMD families and can be easily applied to the screening of at-risk female...

Steroids in Duchenne muscular dystrophy In his commentary [1] on our recent publication on glucocorticoids in Duchenne muscular dystrophy (DMD) [2], Professor Dubowitz raises the interesting possibility that the prolonged ambulation in Duchenne boys on continuous therapy in contrast to the intermittent schedule may be related to the marked stunting of growth secondary to the higher dose of cort...

The mills of God grind slowly. The medical profession are not far behind. It is almost 40 years since Drachman et al. [1] in an open study of 14 patients with Duchenne dystrophy, aged 3–10 years, for periods ranging from 1 to 28 months, concluded that steroids might have some palliative benefit, and that further studies were needed. Some 14 years later Brooke and his colleagues [2] took up the ...

Cardiomyopathy is currently the leading cause of death for patients with Duchenne muscular dystrophy (DMD), a severe neuromuscular disorder affecting young boys. Animal models have provided insight into mechanisms by which dystrophin protein deficiency causes cardiomyopathy, but there remains need to develop human DMD validate pathogenic and identify therapeutic targets. Here, we developed engi...