Wellstone Muscular Dystrophy Research Center

UI Muscular Dystrophy Discovery

Pediatric Neuromuscular and Related Genetic Disease Program

UI Neurosciences

There is no single disease called muscular dystrophy. The term muscular dystrophy is used to describe a number of inherited disorders characterized by progressive weakness and loss of voluntary muscles that control movement in the body.

Kathy Mathews, MD, director of the Division of Pediatric Neurology at University of Iowa Children's Hospital, and an associate professor in the Roy J. and Lucille A. Carver College of Medicine, says it depends on how you define the types and count them, "but there are at least 35-40 genetically distinct forms of muscular dystrophy.  

"By definition, the muscular dystrophies (MD) are inherited, so they are caused by abnormalities of specific genes. The biochemical and molecular changes inside the cells are still being worked out. Anyone is at risk for MD, though most forms present in childhood. People with a family member who has MD have an increased chance of having inherited the disease," she says.  

In the diagnoses of muscular dystrophy, Matthews says usually the first test is a blood test that looks for evidence of muscle breakdown, called a CK. Other tests that might be considered depending on the specific situation include genetic testing on blood, EMG which looks at the electrical activity of the muscle, or a muscle biopsy.

"Like many diseases, muscular dystrophy can't be cured at this point, but there are things we do to try to manage the problems that result from weakness. The specifics depend on the specific diagnosis, but general approaches include physical therapy for stretching and bracing, surgical treatment of complications like scoliosis, and treatment of heart or breathing problems if they occur.

"In some forms of muscular dystrophy, we believe that moderate exercise is good, in other forms it is thought to be harmful. There are also some experimental approaches that are undergoing trials now," she says.

"We are involved in several muscular dystrophy studies. The Centers for Disease Control and Prevention (CDC) sponsored study, called MDSTARnet, is a multi-state effort to describe the current epidemiology of Duchenne and Becker muscular dystrophies (two names for a single genetic abnormality).  

"We are trying to identify every person in Iowa born after January 1, 1981, with DBMD. We are looking at how they were diagnosed, treatments they received, and complications and health problems they have had. This information is expected to help guide public policy and treatment for these patients."

For more information about this study, contact Carrie Stephan, RN, nurse coordinator for the muscular dystrophy projects, at 319-356-2673.

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