Muscular Dystrophy

WHAT YOU SHOULD KNOW

Muscular dystrophy is a blanket term for a group of disorders in which the muscles grow progressively weaker. The problem almost always surfaces in childhood and is usually inherited by boys from their mother. The most common form is Duchenne muscular dystrophy, which typically begins between the ages of 3 and 7.

Causes

All forms of this disorder are inherited. Duchenne muscular dystrophy affects boys almost exclusively because it is transmitted through the mother's X chromosome. Girls receive a second X chromosome from their father that overrides the abnormal X chromosome from the mother. Boys, on the other hand, get a Y chromosome from the father, leaving the abnormal X chromosome free to work its mischief. Boys with this disorder suffer from an almost total lack of the protein dystrophin, which is needed to maintain muscle cell structure.

Signs/Symptoms

During the onset of the Duchenne form of the disease, muscles usually begin to weaken in the hips and upper legs, followed by the shoulders. You may notice that the child has difficulty walking and running. His calves may become enlarged due to an accumulation of fat and connective tissue in the muscle. By age four or five, he may have difficulty standing up straight or raising his arms high above his head, and may experience frequent falls.

In other forms of the disease, different muscles—such as those in the face, hands, or lower legs—may become weak. However, the weakness is usually not as pronounced as in Duchenne muscular dystrophy.

Care

Currently, there is no cure for this disease. Treatment is aimed at making the child as comfortable as possible and helping him cope with the condition. Most children who suffer from muscular dystrophy participate in physical, occupational, and respiratory therapy. While these treatments don't stop the progression of the disease, they can improve the child's quality of life.

Physical therapy, for example, can prevent the muscles from contracting permanently around the joints, and helps maintain as much strength as possible in muscles that are still working properly. Occupational therapy trains the child in the use of specially designed aids, such as orthopedic devices, needed for performing daily activities. Respiratory therapy is usually needed in the latter stages of the disease when breathing becomes difficult. Antibiotics may also be used to relieve respiratory distress.

Doctors are continuing to study this disease, and intensive research in gene therapy may eventually lead to a cure. Various drug therapies are also being investigated to provide temporary relief from muscle weakness.

Risks

Muscular dystrophy grows gradually more debilitating until the child is completely crippled. By age 11 or 12, most victims are confined to a wheelchair. The heart is usually affected, and respiratory problems are common. Few patients reach adulthood.

WHAT YOU SHOULD KNOW

• Work closely with your child's doctors and physical therapists to maintain an exercise program that will help keep healthier muscles working properly and delay the onset of muscle shrinkage and weakness (contractures).
• Provide healthy, low fat meals. It is important to prevent the child from becoming overweight. Excess pounds will put an extra burden on the weakening muscular system.
• Follow-up visits are scheduled annually, but at certain stages of the disorder, more frequent check-ups may be required.
• Any woman who has a history of muscular dystrophy in her family may want to get genetic counseling prior to conception to see if she carries the defective gene.
• For more information, contact the Muscular Dystrophy Association at 520-529-2000 or visit their website at www.mdausa.org.

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