muscular dystrophy, Duchenne

muscular dystrophy, Duchenne The bestknown form of muscular dystrophy, which is due to mutation in a gene on the X chromosome that prevents the production of dystrophin, a normal protein in muscle. Abbreviated DMD. DMD affects boys and, very rarely, girls. DMD typically appears after two years of age with weakness in the pelvis and upper limbs, resulting in clumsiness, frequent falling, an unusual gait, and general weakness. Some patients also have mild mental retardation. As DMD progresses, the patient may need a wheelchair. Most patients with DMD die in their 20s because of muscle-based breathing and heart problems. There is no cure for DMD. Current treatment is directed toward symptoms, such as assisting with mobility, preventing scoliosis, and providing pulmonary therapy.