Your Health: Duchenne's Muscular Dystrophy

By:Ivanhoe Broadcast News

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Marie Pichaske Children's National Medical Center (202) 476-6029

DMD is genetic, but people without a known family history of the disease can get it, as well. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Dystophin is a protein that helps keep muscle cells intact. It is also an integral structural component of skeletal and cardiac muscles and connects the contractile apparatus to the sarcolemma.

Males are more likely to inherit the disease than women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50 percent chance of having the disease. The daughters each have a 50 percent chance of being carriers.

With DMD, boys begin showing signs of muscle weakness as early as three. The disease gradually begins to weaken skeletal, or voluntary, muscles found in the arms, legs, and trunk. Respiratory muscles may also be affected by the boys early teens and in some cases even earlier.

Exon skipping is a new procedure used to treat DMD. Removing a specific exon from a defective DMD gene transcript has the potential to allow synthesis of a semi-functional dystrophin, thereby reducing the severity and presumably progression of muscle wasting. The efficacy of this treatment will vary greatly between the different mutations that preclude the synthesis of a functional dystrophin.

Since DMD is genetic, there is no way to prevent the disease; however, doctors do recommend people with a family history of disease undergo genetic counseling. Duchenne muscular dystrophy can be detected with about 95 percent accuracy by genetic studies performed during pregnancy.

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Your Health: Duchenne's Muscular Dystrophy