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Alternative Names Return to top
Inherited myopathy; MDDefinition Return to top
Muscular dystrophy is a group of disorders that involve muscle weakness and loss of muscle tissue that get worse over time.
Causes Return to top
Many diseases called muscular dystrophies (MD) are inherited disorders, such as:
Symptoms Return to top
Symptoms vary with the different types of muscular dystrophy.
All of the muscles may be affected. Or, only specific groups of muscles may be affected, such as those around the pelvis, shoulder, or face. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.
Symptoms include:
Exams and Tests Return to top
A physical examination and your medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.
Signs may include:
Some types of muscular dystrophy involve the heart muscle, causing cardiomyopathy or disturbed heart rhythm (arrhythmias).
Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build-up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.
A muscle biopsy may be used to confirm the diagnosis. In some cases, a DNA blood test may be all that is needed.
Other tests may include:
This disease may also alter the results of the following tests:
Treatment Return to top
There are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms.
Physical therapy may help patients maintain muscle strength and function. Orthopedic appliances such as braces and wheelchairs can improve mobility and self-care abilities. In some cases, surgery on the spine or legs may help improve function.
Corticosteroids taken by mouth are sometimes prescribed to children to keep them walking for as along as possible.
The person should be as active as possible. Complete inactivity (such as bedrest) can make the disease worse.
Support Groups Return to top
You can ease the stress of illness by joining support groups where members share common experiences and problems. See muscular dystrophy - support group.
Outlook (Prognosis) Return to top
The severity of disability depends on the type of muscular dystrophy. All types of muscular dystrophy slowly get worse, but how fast this happens varies widely.
Some types of muscular dystrophy, such as Duchenne muscular dystrophy, are deadly. Other types cause little disability and people with them have a normal lifespan.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if:
Prevention Return to top
Genetic counseling is advised when there is a family history of muscular dystrophy. Women may have no symptoms but still carry the gene for the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
References Return to top
Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 608.
Update Date: 12/17/2008 Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; and Daniel B. Hoch, PhD, MD, Assistant Professor of Neurology, Harvard Medical School, Department of Neurology, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
