Page header image

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. The muscle weakness makes it hard or even impossible for your child to walk. Currently, there is no cure for the disease.

There are many forms of muscular dystrophy. Duchenne muscular dystrophy (DMD) is the most common type. It is also the most severe childhood form of the disease. It usually starts before the age of 5 and affects mostly boys.

MD can affect the heart. Also, as the breathing muscles weaken, a child may start having lung problems, including pneumonia. The life span for people with MD is usually shorter than normal.

What is the cause?

MD is a genetic disorder. This means that a child with MD has one or more defective genes. Genes contain the information used by the body’s cells to make proteins, the body's building blocks. Each protein does a specific job. Children who have MD 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 that causes MD but usually shows no symptoms of MD.

Because of the way DMD is inherited, it’s much more common in boys than girls. However, girls can be carriers.

What are the symptoms?

Signs of muscular dystrophy are often noticed when a child is very young. Symptoms may include:

  • Muscle weakness
  • Clumsiness and frequent falls
  • Trouble getting up from the floor
  • An unusual, waddling gait when he walks
  • Enlargement of the calf and other muscles

Usually children with DMD start having trouble with climbing stairs and getting off the ground between the ages of 3 and 5 years.

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—for example, a test for creatine kinase, a muscle enzyme (children with MD usually have high levels of creatine kinase)
  • Muscle biopsy, which is the removal of a small sample of tissue for testing
  • Tests of muscle and nerve function

How is it treated?

Although there is no cure, symptoms of muscular dystrophy can be helped with:

  • Exercise programs and physical therapy so there is less muscle shortening around the joints
  • Surgery to relieve muscle shortening and curvature of the spine

Medicine may include:

  • Steroids to slow break down and loss of muscles tissue
  • Seizure medicine
  • Medicines called immunosuppressants to slow damage to muscle cells
  • Antibiotics for lung infections

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

Your child may have a walker or wheelchair to help your child get around.

Many experimental therapies have not yet shown proven benefits. However, there is a great deal of medical research going on to find better treatments and a cure for this disease.

How can I take care of my child?

A diet similar to that for any growing child is recommended, with some changes. Your child’s diet should be high in fluid and fiber, with lots of fresh fruits and vegetables to prevent severe constipation. 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 hear your child’s test results
  • What 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:

Developed by RelayHealth.
Pediatric Advisor 2013.2 published by RelayHealth.
Last modified: 2013-02-25
Last reviewed: 2013-02-07
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.
© 2013 RelayHealth and/or its affiliates. All rights reserved.
Page footer image