Duchenne muscular dystrophy

A new disease profile is added to our database – Duchenne muscular dystrophy. The muscular dystrophies are a group of muscle diseases which have three features in common: they are hereditary; they are progressive; and each causes a characteristic, selective pattern of weakness. The most distinctive feature of Duchenne muscular dystrophy (DMD) is a progressive proximal muscular dystrophy with characteristic pseudohypertrophy of the calves. The bulbar (extraocular) muscles are spared but the myocardium is affected. Duchenne muscular dystrophy is due to a defect of a gene, the normal function of which is to enable muscle fibres to make a particular chemical substance, a protein called dystrophin. Muscle fibres in people affected with DMD are extremely deficient in dystrophin. DMD affects predominantly males with approximate frequency of 3 per 100 000. Unless a boy with DMD is known to be at risk because of his family history, he is unlikely to be diagnosed before the age of 2 or 3 years. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in neurology – Dr. Pavel Balabanov, MD.