Duchenne muscular dystrophy

Duchenne muscular dystrophy (also known as pseudohypertrophic muscular dystrophy or muscular dystrophy - Duchenne type) is an inherited disorder characterized by rapidly progressive muscle weakness which starts in the legs and pelvis and later affects the whole body. Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy. It usually affects only boys, but in rare cases it can also affect girls. It is an X-linked recessive inherited disease.

Related Topics:
Muscular dystrophy - X-linked - Inherited disease

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It is named after the French neurologist Guillaume Benjamin Amand Duchenne (1806-1875), who first described the disease in the 1860s. One third of the cases are known to be caused by development of spontaneous mutations in the dystrophin gene, while the remainder are inherited. Boys with DMD develop weak muscles because the muscle fibers that were present at birth are destroyed. It is due to mutations in the dystrophin gene, which encodes a cell membrane protein in myocytes (muscle cells).

Related Topics:
Neurologist - Guillaume Benjamin Amand Duchenne - 1806 - 1875 - 1860s - Dystrophin - Cell membrane - Protein - Myocyte

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