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Children's Health

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Understanding Muscular Dystrophy -- Diagnosis and Treatment

How is Muscular Dystrophy Diagnosed?

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

  • A muscle biopsy (the removal and exam 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)
  • Blood enzyme tests (to look for the presence of creatine kinase, which reveals deterioration of muscle fibers)

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.

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What Are the Treatments for 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.

Conventional Medicine for Muscular Dystrophy

Symptoms often can be relieved through exercise, physical therapy, rehabilitative devices, respiratory care, and surgery:

  • Exercise and physical therapy can minimize abnormal or painful positioning of the joints and may prevent or delay curvature of the spine. Respiratory care, deep breathing, and coughing exercises are often recommended.
  • Canes, powered wheelchairs, and other rehabilitative devices can help those with MD maintain mobility and independence.
  • Surgery can sometimes relieve muscle shortening. In Emery-Dreifuss and myotonic muscular dystrophy, it's often necessary to surgically implant a cardiac pacemaker.

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.

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