Children’s Health – Muscular Dystrophy Diagnosis & Treatment

How is Muscular Dystrophy Diagnosed?

Muscular dystrophy (MD) is diagnosed through a physical exam, a family medical history, and tests. These might include:

For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin, a muscle 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.

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.

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 medication:

Medications also can be prescribed for some muscular dystrophy-related heart problems.

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 those with MD -- 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; their sons will get the disease and half the time, their 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.

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Children's Health - Muscular Dystrophy Diagnosis & Treatment