WHAT IS DUCHENNE

Duchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal neuromuscular disorder, present from birth, which occurs almost exclusively in males although some female carriers are symptomatic and can exhibit a milder form of the disorder. Duchenne Muscular Dystrophy belongs to a group of inherited conditions and results from both familial (approx 65%)and new genetic mutations (approx 35%), therefore any newborn male can be affected. It is characterised by progressive muscle wasting caused by hereditary X-linked mutations of the dystrophin gene. The defective gene causes muscle damage and weakness which progresses to disability and (if the physical complications and psychological effects are poorly managed) a severely reduced quality of life and an early death, most commonly from respiratory or cardiac failure.