Muscular Dystrophy

Muscular dystrophy describes a group of genetic muscle diseases that cause muscle weakness.

What is going on in the body?

Each of the diseases that make up muscular dystrophy are progressive. This means these diseases get worse over time. In one of the most common forms of muscular dystrophy, there is a genetic defect in a certain muscle protein. The genetic defects that cause the other forms of muscular dystrophy are not as well understood.

What are the causes and risks of the disease?

The cause is genetic and these diseases are inherited from either one or both parents. The main risk of these conditions is that the muscles become too weak. This may make a person unable to walk or even unable to breathe. Death occurs at a young age in many cases of muscular dystrophy.

What are the signs and symptoms of the disease?

All forms of muscular dystrophy generally have muscle weakness as the main symptom. The location of the weakness and other symptoms depend on the type of muscular dystrophy. Examples of other symptoms include:

How is the disease diagnosed?

The diagnosis is made through physical examination, blood tests, muscle-stimulation tests, and muscle biopsy. Muscle-stimulation tests, known as electromyography or EMG, use electrical shocks to cause muscle movement. This movement is abnormal in muscular dystrophy. A muscle biopsy is a procedure in which a doctor takes a piece of a muscle with a special needle. This piece of muscle can be tested and looked at under the microscope to give a diagnosis.

What can be done to prevent the disease?

Because this condition is genetic, nothing can be done to prevent it in an individual. Once parents have an affected child, they may want to seek genetic counseling to determine the risk of having another affected child.

What are the long-term effects of the disease?

Death at a young age occurs in many cases of musular dystrophy. The person and his or her family must cope with a life-long disease that slowly gets worse.

What are the risks to others?

This disease is not contagious, so there are no risks to others.

What are the treatments for the disease?

Treatment cannot cure these diseases at this point in time. Corticosteroid medications may slow the progression in some cases. Special braces for the arms or legs may allow a person to continue to be active for longer. Wheelchairs are often required later in the disease course. Surgery may help in some cases if the limbs become deformed. Special treatments may be required to support the heart and breath.

What are the side effects of the treatments?

Corticosteroid medications have many side effects, including bone loss, weight gain, and depression. Surgery may be unsuccessful or may cause bleeding or infection.

What happens after treatment for the disease?

These diseases virtually all get worse over time and current treatment does little to change this fact.

How is the disease monitored?

Symptoms are monitored, as is the person's ability to carry out daily activities, such as walking.

Author:Adam Brochert, MD
Date Written:
Editor:Duff, Ellen, BA
Edit Date:04/21/00
Reviewer:Ronald Jorgenson, DDS, PhD, FACMG
Date Reviewed:04/23/01

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