Muscular dystrophy is a group of genetic diseases in which muscle fibers are unusually susceptible to damage. These damaged muscles become progressively weaker. Most people who have muscular dystrophy will eventually need to use a wheelchair.
There are many different kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood, primarily in boys. Other types of muscular dystrophy don't surface until adulthood.
People who have muscular dystrophy may have trouble breathing or swallowing. Their limbs may also draw inward and become fixed in that position — a problem called contracture. Some varieties of the disease can also affect the heart and other organs.
While there is no cure for muscular dystrophy, medications and therapy can slow the course of the disease.
Progressive muscle weakness is the main feature of muscular dystrophy. Each separate form of muscular dystrophy varies a bit in terms of the age at which the signs and symptoms usually begin and the sequence in which different muscle groups are affected.
Duchenne muscular dystrophy
Becker muscular dystrophy
Other types of muscular dystrophy
When to see a doctor
Hundreds of genes are involved in making proteins that protect muscle fibers from damage. Muscular dystrophy occurs when one of these genes is defective. Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. Many of these mutations are inherited, but some occur spontaneously in the mother's egg or the developing embryo.
Muscular dystrophy occurs in both sexes and in all ages and races, but the most common variety usually occurs in young boys. People who have a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children.
Some types of muscular dystrophy shorten the person's lifespan, often by affecting the muscles associated with breathing. Even with improved mechanical breathing assistance, people who have Duchenne muscular dystrophy — the most common type of muscular dystrophy — usually die of respiratory failure before they reach age 40.
Many types of muscular dystrophy can also reduce the efficiency of the heart muscle. If the muscles involved with swallowing are affected, nutritional problems may develop.
As muscle weakness progresses, mobility becomes a problem. Many people who have muscular dystrophy will eventually need to use a wheelchair. However, the prolonged immobility of joints associated with wheelchair use can worsen contractures, in which the limbs draw inward and become fixed in that position.
Contractures may also play a part in the development of scoliosis, a sideways curvature of the spine that further reduces lung efficiency in people who have muscular dystrophy.
Preparing for your appointment
You'll probably first bring your concerns to the attention of your family doctor, but you may be referred to a doctor who specializes in the diagnosis and treatment of muscular dystrophy.
What you can do
Questions to ask the doctor include:
What to expect from your doctor
Tests and diagnosis
In addition to a medical history review and physical examination, your doctor may suggest some of the following tests:
Treatments and drugs
There's currently no cure for any form of muscular dystrophy. Research into gene therapy may eventually provide treatment to stop the progression of some types of muscular dystrophy. Current treatment is designed to help prevent or reduce deformities in the joints and the spine and to allow people with muscular dystrophy to remain mobile as long as possible.
Surgical and other procedures
Lifestyle and home remedies
Because respiratory infections may become a problem in later stages of muscular dystrophy, it's important to be vaccinated for pneumonia and to keep up to date with influenza shots.
Coping and support
For family members of people with muscular dystrophy, coping with the illness involves major commitment of physical, emotional and financial resources. The disease presents challenges in the classroom, in the home and in all aspects of life.
In dealing with muscular dystrophy, support groups can be a valuable part of a wider network that includes health care professionals, family, friends and community organizations, including places of worship.
Support groups bring together people, family and friends who are all coping with the same kind of physical or mental health challenge. Support groups provide a setting in which people can share their common problems and provide ongoing support to one another.
Ask your doctor about self-help groups that may exist in your community. Your local health department, public library, telephone book and the Internet also may be good sources to locate a support group in your area.
Last Updated: 2012-01-18
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