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Muscular Dystrophy

What is muscular dystrophy?

Muscular dystrophy is also called MD. It is a genetic disease that can affect different groups of muscles in your body. A genetic disease is one that you may inherit from your family and may pass on to your children. MD may also be a condition that you are born with. MD causes the muscle cells to die. This results in the muscle becoming weak, small, and deformed. MD may also affect other parts of your body, such as your heart, lungs, eyes, and brain. There are many types of MD. Each type may have different muscles that may be affected.

What are the different types of muscular dystrophy?

The following are the most common types of MD:

  • Congenital muscular dystrophy: Floppy and weak muscles are seen at birth. Babies with this condition may also have epilepsy and decreased mental ability.

  • Distal muscular dystrophy: Muscle weakness is found only in the forearms, hands, lower legs, and feet.

  • Duchenne and Becker muscular dystrophy: Weakness is usually found in the muscles of the thighs, hips, knees, neck, shoulders, and upper arms.

  • Emery-Dreifuss muscular dystrophy: Early onset of muscle stiffness and deformity starts in the shoulder and lower leg. Early contractures (shortened muscles) are seen at the Achilles tendon, elbow, and neck.

  • Facioscapulohumeral muscular dystrophy: This is also known as Landouzy-Dejerine dystrophy. Muscle weakness involves a pattern starting with the face and shoulder, later moving on to the hip and lower legs.

  • Limb-girdle muscular dystrophy: Muscle weakness involves the thighs and shoulders.

  • Oculopharyngeal muscular dystrophy: Symptoms usually include droopy eyelids and trouble swallowing. Weakness of the neck muscles is also seen.

  • Myotonic dystrophy: Also known as Steinert's disease . This type of MD causes stiffness of muscles that cannot relax normally (myotonia). This MD can affect children, but often starts in adult life. The progress of this MD is slower, and often starts with weakness of arm and leg muscles, including hands and feet.

What causes muscular dystrophy?

All the muscular dystrophies are caused by problems with the information in genes and chromosomes. A gene is a little piece of information that tells your body what to do or what to make. A chromosome is like a package or container that holds all the genes.

What are the signs and symptoms of muscular dystrophy?

MD may have many different symptoms depending on the type. At the onset, all the muscular dystrophies cause some kind of muscle weakness. Over time, the muscles become small and deformed. These muscle problems can occur in many places of your body. Some types of MD often involve problems in other body parts, such as the heart and lungs.

How is muscular dystrophy diagnosed?

You may have one or more of the following tests:

  • Biopsy: Caregivers remove a small piece of tissue from your muscle to be sent to the lab for tests.

  • Blood tests: You may need blood taken to give caregivers information about how your body is working. The blood may be taken from your hand, arm, or IV.

  • Electromyography: This is also called an EMG. An EMG is done to test the function of your muscles and the nerves that control them. Electrodes (wires) are placed on the area of muscle being tested. Needles that enter your skin may be attached to the electrodes. The electrical activity of your muscles and nerves is measured by a machine attached to the electrodes. Your muscles are tested at rest and with activity.

  • Genetic test: This test provides genetic information to learn if a hereditary disease is causing your problem.

  • Magnetic resonance imaging: This test is also called an MRI. Pictures of your muscles are taken during this test. Caregivers use these pictures to look for changes in your muscles.

How is muscular dystrophy treated?

There is no cure for muscular dystrophies. MD cannot be stopped or turned around. Caregivers will work with you to help you or your child keep a good quality of life for as long as possible. You may need one or more of the following:

  • Assistive devices: These are devices that protect and support your body to prevent further injury. These devices may include braces, crutches, or wheelchairs.

  • Medicine: Steroids and pain medicines may be given to decrease redness, pain, and swelling. Medicines may also be given to treat other conditions that are found with MD, such as heart medicines.

  • Rehabilitation therapy: Physical and occupational therapies may be needed to help you become better able to take care of yourself. Physical therapies are exercises to help make your bones and muscles stronger. Occupational therapy uses work, self-care, and play activities to help you in your daily life.

  • Surgery: This may be needed to treat problems from MD, such as contractures (tightening of muscles affecting movement of joints).

Where can I find support and more information?

Muscular dystrophy is a life-changing disease for you, your child, and your family. Having MD is hard. You and those close to you may feel angry, sad, or frightened. These are normal feelings. Talk to your caregivers, family, or friends about your feelings. You may also want to join an MD support group. Contact the following for more information:

  • Muscular Dystropy Association
    3300 E. Sunrise Drive
    Tucson , AZ 85718
    Phone: 1- 800 - 344-4863
    Web Address:
  • National Society of Genetic Counselors
    401 N. Michigan Ave.
    Chicago , IL 60611
    Phone: 1- 312 - 321-6834
    Web Address:

Care Agreement

You have the right to help plan your care. Learn about your health condition and how it may be treated. Discuss treatment options with your caregivers to decide what care you want to receive. You always have the right to refuse treatment. The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.

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