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What are the Symptoms of Muscular Dystrophy?

All forms include muscle weakness and progressive crippling. Myotonic includes muscle spasms or stiffening after use, hand weakness, and foot drop. Duchenne and Becker includes clumsiness, frequent falling, difficulty getting up, waddling gait, and curvature of the spine.

Inform your doctor if a male toddler has decreased ability to walk or climb stairs or has difficulty lifting his arms above his head--or if an adult experiences muscle spasms or stiffening after use, hand weakness and foot drop.

How Do You Know If Your Child Has MD?

Muscular dystrophy is diagnosed through a physical exam, a family medical history, and tests, such as a muscle biopsy , DNA testing, electromyography or nerve conduction tests (which use electrodes to test muscle and/or nerve function) and blood enzyme tests . For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin 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.

Prevention

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 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; sons get the disease and half the time daughters become carriers. For Duchenne and Becker muscular dystrophies, protein and DNA tests can identify carriers, and DNA probes can provide prenatal diagnosis.

Treatments

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.

A boy with MD may need the folowing services:

Transportation Services, Phyiscal Therapy, Occupational Therapy, Speech Therapy, Counseling Services, Social Work, Developmental/Corrective Services, Assistive Technology

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©Craig Carpenter October 2006
Plymouth State University