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Duchenne Muscular Dystrophy
What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy, also called DMD, is a genetic disease affecting different groups of muscles in the body. A genetic disease is one that you are born with and you may have inherited from your family. DMD causes muscle cells to die, and results in the muscle becoming weak, small, and deformed. DMD usually starts in the lower limbs and pelvis, and moves quickly to other muscles. It is rarely found in girls, and boys are usually the only ones affected.
What causes Duchenne muscular dystrophy?
Duchenne muscular dystrophy is caused by problems with the genes and chromosomes. Genes are little pieces of information that tell your body what to do or what to make. Chromosomes are like packages that hold all the genes.
What are the signs and symptoms of Duchenne muscular dystrophy?
The most common problem in Duchenne muscular dystrophy is muscle weakness. It usually starts in early childhood and affects the lower limbs, in particular the thigh muscles. Other signs and symptoms may include:
- Early phase:
- Clumsiness, frequent falling, a waddling type of walk, and difficulty climbing stairs.
- Large calf muscles.
- Problems thinking, learning, focusing, and remembering.
- Problems with the facial muscles, such as in closing the eyes or puckering the lips.
- Trouble getting up from a sitting or lying position.
- Late phase:
- Contractures (painful shortening of the muscles) or muscle wasting.
- Heart problems.
- Inability to walk or stand.
- Lordosis (spine bends forward) or scoliosis (bending of the spine sideways).
- Trouble breathing and frequent lung infections.
- Trouble swallowing.
How is Duchenne muscular dystrophy diagnosed?
You may have one or more of the following tests:
- Biopsy: Caregivers remove a small piece of tissue from the muscle that is sent to the lab for tests.
- Telemetry is continuous monitoring of your heart rhythm. Sticky pads placed on your skin connect to an EKG machine that records your heart rhythm.
- 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 the problem.
- Magnetic resonance imaging: This test is also called an MRI. Pictures of the muscles are taken during this test. Caregivers use these pictures to look for changes in your muscles.
How is Duchenne muscular dystrophy treated?
There is no treatment for the muscle weakness and wasting of DMD. Medicines may be given to decrease DMD symptoms, such as muscle stiffness and pain. Other supportive therapies may be needed such as:
- Assistive devices: These are devices that protect and support the body to prevent further injury. These devices may include braces, crutches, or wheelchairs.
- Genetic counseling: You and your family will learn more about genetic or inherited diseases. This information may help you and your family in making make important decisions, such as planning a family.
- Medicines: 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 DMD, such as heart medicines.
- Rehabilitation therapies: 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 complications from DMD, such as contractures.
Where can I find support and more information?
Duchenne muscular dystrophy is a life-changing disease for you and your family. Accepting that you or a family member has DMD is hard. You and those close to you may feel angry, depressed, or frightened. These are normal feelings. Talk to your caregivers, family, or friends about your feelings.You may also want to join a muscular dystrophy support group. This is a group of people who have DMD. Contact the following for more information:
- Muscular Dystropy Association
3300 E. Sunrise Drive
Tucson , AZ 85718
Phone: 1- 800 - 344-4863
Web Address: http://www.mdausa.org
- National Society of Genetic Counselors
401 N. Michigan Ave.
Chicago , IL 60611
Phone: 1- 312 - 321-6834
Web Address: www.nsgc.org
Care AgreementYou 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.
Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.