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Duchenne muscular dystrophy DMD is a genetic disorder characterized by progressive muscle degeneration and weakness. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls. Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal voluntary muscles in the arms, legs and trunk.

The calves often are enlarged. By the early teens, the heart and respiratory muscles also are affected. Its onset is usually in the teens or early adulthood, and the course is slower and less predictable than that of DMD. Duchenne muscular dystrophy was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the s, but until the s, little was known about the cause of any kind of muscular dystrophy.

Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged. DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as a carrier. DMD carriers are females who have a normal dystrophin gene on one X chromosome and an abnormal dystrophin gene on the other X chromosome.

Most carriers of DMD do not themselves have signs and symptoms of the disease, but a minority do. Symptoms can range from mild skeletal muscle weakness or cardiac involvement to severe weakness or cardiac effects and can begin in childhood or adulthood. Until relatively recently, boys with DMD usually did not survive much beyond their teen years. Thanks to advances in cardiac and respiratory care, life expectancy is increasing and many young adults with DMD attend college, have careers, get married and have children.

Survival into the early 30s is becoming more common, and there are cases of men living into their 40s and 50s. Human clinical trials are under way for some of these strategies. On Sept. Food and Drug Administration granted accelerated approval to eteplirsen brand name Exondys 51 as the first disease-modifying drug for DMD. The FDA on Feb. Skip to main content.

Search MDA. About MDA. Help Through Services. Hope Through Research. How to Get Involved. Neuromuscular Diseases. Search Donate. What are the symptoms of DMD? What causes DMD? What are DMD 'carriers'? What is the life expectancy in DMD? What is the status of DMD research?

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