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.
Marcela Jones, an English professor in Washington, D.C., says her 3-year-old daughter, Amalia, starts screaming as soon as they step into a doctor's office. Her child's white coat-triggered misery started, Jones says, with her two-year checkup -- Amalia had her routine shots and then went upstairs to another office for a lead blood test. "We had to have three people holding her down," says Jones. "It was horrible."
What's a parent to do? Jones knew she didn't want a struggle like that again, so...
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 supplementscreatine 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: