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How Do I Know If I Have Muscular Dystrophy?

Muscular dystrophy is diagnosed through a physical exam, a family medical history, and tests, such as a muscle biopsy (the removal and examination of a small sample of muscle tissue), DNA (genetic) testing, electromyography or nerve conduction tests (which use electrodes to test muscle and/or nerve function) and blood enzyme tests (which may reveal muscle damage). For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin protein is missing or abnormal, and DNA testing is used to analyze the condition of the related gene. Genetic testing also is available for some forms of muscular dystrophy.

What Are the Treatments?

There is no cure for any form of muscular dystrophy but medications and therapy can slow the course of the disease. Human trials of gene therapy with the dystrophin gene are on the near horizon. For instance, scientists are researching ways to insert a working dystrophin gene into the muscles of boys with Duchenne and Becker muscular dystrophies.

Researchers are investigating the potential of certain muscle building medicines to slow down or reverse the progression of muscular dystrophy. Other trials are looking into the effects of the dietary supplements creatine and glutamine on muscle energy production and storage.

Conventional Medicine

Symptoms often can be relieved through exercise, physical therapy, rehabilitative devices, respiratory care, and surgery. In some cases, disease progression can be slowed or symptoms relieved with medicine. Exercise and physical therapy can minimize abnormal or painful positioning of the joints and may prevent or delay curvature of the spine. Canes, powered wheelchairs, and other rehabilitative devices can help sufferers maintain mobility and independence. Surgery can sometimes relieve muscle shortening. Respiratory care, deep breathing, and coughing exercises are often recommended. In Emery-Dreifuss and myotonic muscular dystrophy, it's often necessary to surgically implant a cardiac pacemaker.

In Duchenne muscular dystrophy, corticosteriods may slow muscle destruction. In myotonic muscular dystrophy, phenytoin, procainamide or quinine can treat delayed muscle relaxation. Medications also can be prescribed for some muscular dystrophy-related heart problems.

How Can I Prevent It?

If you have a family history of muscular dystrophy, you may want to consult a genetic counselor before having children. The odds of passing the disease on to your children range from 25% to 50%. Carriers — typically sisters and mothers of sufferers — usually don't have the disease, but they may exhibit mild symptoms that give hints of it. They can pass the disease on to their children; sons get the disease and half the time, daughters become carriers. For Duchenne and Becker muscular dystrophies, protein and DNA tests can identify carriers, and DNA probes can provide prenatal diagnosis. Tests for carriers of other forms of muscular dystrophy are under development.