Duchenne muscular dystrophy


Duchenne muscular dystrophy (DMD) is an inherited genetic condition that affects about two out of every 10,000 people. Due to the inheritance pattern of DMD, males are more frequently affected with the disease than females (about 1 in 3,500 males is affected with DMD). DMD is part of a group of hereditary muscle diseases called muscular dystrophies.
Patients with DMD experience a progressive degeneration of muscle function beginning in infancy or early childhood. The loss of muscle function usually starts in the pelvis and the legs and eventually spreads to all parts of the body. Patients with DMD first lose the ability to walk, and eventually they lose the ability to move other parts of their bodies, such as the arms.
DMD is caused by a defect, or mutation, in a gene that contains instructions for making dystrophin, a protein that normally helps to maintain the structure and function of muscle. Individuals with DMD have reduced levels of this protein, so the muscles cannot carry out normal functions. Becker muscular dystrophy is another type of muscular dystrophy that is caused by a different type of mutation in the dystrophin gene.
Many patients with DMD eventually experience heart and/or lung complications, due to deterioration of muscles in these organs. This may lead to an inability to pump blood or breathe normally.
Most individuals with DMD do not survive past 30 due to the complications of muscle deterioration.
There is currently no known cure for DMD. However, some treatments exist that may help manage the symptoms, such as the use of walking devices to assist with moving and ventilators to assist with breathing.

Related Terms

Cardiomyopathy, contracture, CPK, creatine kinase, creatine phosphokinase, dilated cardiomyopathy, DMD, dystrophin, Gowers' sign, inherited genetic condition, mental retardation, muscle defect, myodystrophica, myodystrophy, pseudohypertrophic muscular dystrophy, pseudohypertrophy creatine kinase, scoliosis.