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Duchenne Muscular Dystrophy

What is muscular dystrophy?

Muscular dystrophy (MD) is a group of inherited diseases that cause muscle weakening and a loss of muscle tissue. The body replaces the lost muscle tissue with fat and connective tissue. Over time, the muscle weakness makes it hard or even impossible for your child to walk. DMD can make the heart muscle weak and it may not be able to pump enough blood to the body. Also, as the breathing muscles weaken, a child may start having lung problems, including pneumonia.

There are many forms of muscular dystrophy. Duchenne muscular dystrophy (DMD) is the most common type. Although the disease is severe, children with DMD often live into adulthood.

What is the cause?

DMD is a genetic disorder. This means that it is caused by a problem with one or more genes. Genes are inside each cell of your body. They contain the information that tells your body how to develop and work. Changes in the genes can be passed from parents to children.

Children who have DMD have a problem with a gene that makes a protein needed by their muscles. Without this protein, or the right form of the protein, their muscles don’t work right.

One or both parents may be a carrier of the defective gene and pass it on to their child. A carrier is a person who has the faulty gene but usually shows no symptoms of the disease.

Because of the way DMD is inherited, it affects mostly boys. Symptoms are rare in girls. However, girls can be carriers.

What are the symptoms?

Symptoms start in early childhood, usually between the ages of 3 and 5 years. Symptoms may include:

  • Muscle weakness
  • Clumsiness and frequent falls
  • Trouble getting up from the floor or getting up after lying down
  • An unusual, waddling gait when your child walks
  • Problems with learning
  • Changes in muscle size

How is it diagnosed?

Your child’s healthcare provider will ask about your child’s symptoms and medical history and examine your child. Tests may include:

  • Blood tests
  • Muscle biopsy, which is the removal of a small sample of tissue for testing
  • Tests of the muscle and nerves

Your child may be referred to a specialist for treatment.

How is it treated?

Treatment is focused on managing the symptoms with:

  • Exercise programs and physical therapy so there is less muscle shortening around the joints
  • Leg braces and use of wheelchairs and walkers
  • Surgery to relieve muscle shortening and curving of the spine

Medicine may include:

  • Steroids to slow the breakdown and loss of muscles tissue
  • Seizure medicine
  • Medicines called immunosuppressants to slow damage to muscle cells
  • Heart medicine

If it gets hard for your child to breathe, your child may use a machine that helps breathing, especially at night.

How can I take care of my child?

You may need to make some changes in your child’s diet.

  • Your child’s diet should be high in fluid and fiber, with lots of fresh fruits and vegetables to prevent constipation (bowel movements fewer than 3 times a week).
  • If your child is taking a steroid or has heart problems, he may need to cut back on sodium (salt) in the diet.
  • Children who use power wheelchairs, take a steroid, or are not very active should have a low-calorie diet to keep their weight down. Being overweight can stress weakened muscles and the heart. A low-calorie diet does not hurt the muscles.

Follow your child’s healthcare provider's instructions. Ask your provider:

  • How and when you will get your child’s test results
  • If there are activities your child should avoid and when your child can return to normal activities
  • How to take care of your child at home
  • What symptoms or problems you should watch for and what to do if your child has them

Make sure you know when your child should come back for a checkup.

You can get more information about MD from:

Written by Robert M. Brayden, MD, Professor of Clinical Pediatrics, University of Colorado School of Medicine.
Pediatric Advisor 2019.4 published by Change Healthcare.
Last modified: 2018-05-09
Last reviewed: 2018-05-09
This content is reviewed periodically and is subject to change as new health information becomes available. The information is intended to inform and educate and is not a replacement for medical evaluation, advice, diagnosis or treatment by a healthcare professional.
© 2018 Change Healthcare LLC and/or one of its subsidiaries
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