Duchenne muscular dystrophy

Duchenne muscular dystrophy is an X-linked recessive disease that affects about 1:3500 male birth. It is caused by mutations of the DMD gene. Mutations lead to a loss of dystrophin which results in progressive muscle degeneration. The phenotype is characterised by a progressive proximal pronounced muscle weakness. Without intervention wheelchair is required in the beginning of the teens and death occurs at about 20(th) year of life because of respiratoy or cardiac failure. Comprehensive multidisciplinary management can improve the course of disease, in particular the implementation of non-invasive ventilation remarkably prolonged life expectancy. Several gene therapeutic approaches are under examination. At present efficacy of exon skipping is investigated in international multicenter clinical trials.