Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an eventually fatal disorder that is characterized by rapidly progressive muscle weakness and atrophy of muscle tissue starting in the legs and pelvis and later affecting the whole body. DMD is the most common form of muscular dystrophy.

DMD affects young males, due to its X-linked recessive inheritance pattern, with onset of symptoms occurring usually before the sixth year. Women can be carriers of DMD but usually exhibit no symptoms. Two-thirds of DMD incidences are caused by genetic inheritance from the mother, while the remainder are caused by mutations in the genes of the egg or embryo.

DMD is named after the French neurologist Guillaume Benjamin Amand Duchenne (1806-1875), who first described the disease in the 1860s. It is caused by mutations in the DMD gene, which encodes dystrophin an essential cell membrane protein in myocytes (muscle cells).

Becker's muscular dystrophy (BMD) is also caused by DMD gene mutations and has similar symptoms to Duchenne, but the onset is later and the course is milder.