Duchenne muscular dystrophy (DMD) is inherited as an X-linked recessive disorder which affects 1 in 3600 to 6000 live male births and is the most common childhood neuromuscular disorder. Most patients present with delayed motor milestones or proximal muscle weakness and are diagnosed at 5 years of age, when their physical ability diverges markedly from that of their peers. Non-progressive cognitive dysfunction, learning disability and autism are recognised features of the disease. Untreated, these boys have loss of independent ambulation by the age of 9 to 12 years. The mean age at death without intervention is around 19 years, with the leading causes of death being respiratory insufficiency, followed by cardiac complications such as dilated cardiomyopathy.
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