About Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy is a genetic disorder that involves rapidly worsening muscle weakness. It is a recessive x-linked (passes mother to son) form of muscular dystrophy. It results in muscle degeneration, difficulty walking, breathing and ultimately death. 1 in 3,500 boys are affected worldwide. The disorder is formed by a mutation in the dystrophin gene. One-third of all cases of Duchenne are the result of a spontaneous mutation, which means this could happen to anyone. Symptoms usually appear in male children by age 5. Progressive muscle weakness is first observed in the legs and pelvis, eventually leading to the arms, neck and other areas. Symptoms include pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, difficulty with stairs, getting up from the floor, running and standing unaided at times. As the disease progresses muscle is turned into fat or fibrosis. By age 10 braces may be required to aid walking and by 12 years usually wheelchair dependant. Later symptoms can include scoliosis and eventual paralysis. Intellectual impairment may be involved but does not progress with time. The average life expectancy for patients afflicted with this horrific disease is late teens to mid twenties due to complications of respiratory and/or cardiac function. This disease has a 100% fatality rate.