Q&A: What is Muscular Dystrophy?

What is muscular dystrophy?

Muscular dystrophy is actually a group of muscle diseases that involve the progressive weakening of the voluntary muscles. This disease can affect all age groups from the young to those that are middle aged and older.

How is muscular dystrophy diagnosed?

Muscular dystrophy is usually determined in a patient by physical exam, the medical past of relatives, and other assessments/tests. Some of these tests used are:

  • Muscle tissue extraction (this is when a small piece of muscle tissue is drawn from the patient)
  • Genetic Tissue Assessment
  • Nerve conduction assessment (this is when electrodes are used to assess muscle and nervous system abilities)
  • Blood Enzyme Assessment (this can show any damage to muscles)

DNA testing is also used for some types of muscular dystrophy. In those with Duchenne and Becker MDs, extraction of muscle tissue can show if the dystrophin protein is absent or unusual, and genetic assessments are used to evaluate the state of the dystrophin gene.

What is the treatment for muscular dystrophy?

Currently, there’s no cure for muscular dystrophy, but supplements and gene therapy can delay the progression of the disease. However, research is ongoing to find new treatments or cures for muscular dystrophy.

Human tests of gene therapy using a gene called dystrophin are currently underway. For example, scientists are looking for a way to put a normal dystrophin gene into boys and girls experiencing Duchenne and Becker MDs. Scientists are looking into the ability of some muscle-building supplements to delay or reverse the course of MD. Other tests are investigating the after effects of the dietary supplements creatine and glutamine to aid in the production of muscle energy.

Certain medications have been shown to slow the progress of MD:

  • In Duchenne MD, corticosteroids may delay muscle destruction.
  • In Myotonic MD, phenytoin, procainamide, or quinine can treat slowed muscle relaxation and increase tonus.

Other ways to cope with muscular dystrophy are:

  • Physical therapy and exercise can help alleviate the painful joints and positions often associated with MD. It could be beneficial in preventing the curvature of the spine that many MD sufferers develop.
  • Respiratory therapy can improve lung function as the muscles regulating breathing are often affected by MD.
  • Pacemaker placement. This is often necessary in pt’s with MD. Remember, you heart is a muscle, too.
  • Durable medical equipment. The use of wheelchairs, powerchairs, and even canes, can help the individual maintain a level of independence.

Are there any ways to prevent muscular dystrophy?

MD is a genetic disorder and genetic counseling is recommended for anyone with a family history of the disease. There are no other ways of preventing MD at this time.



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