Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a genetic disease. The main sign of DMD is muscle weakness that worsens over time. Before age five, the muscles in the legs, arms, and trunk begin to weaken. Later in the disease, the heart and respiratory muscles weaken.

  • Causes

    DMD is caused by a genetic mutation. The mutation causes the gene to make inadequate amounts of a protein called dystrophin. This protein is needed to keep muscles intact.

  • Definition

    Duchenne muscular dystrophy (DMD) is a genetic disease. The main sign of DMD is muscle weakness that worsens over time. Before age five, the muscles in the legs, arms, and trunk begin to weaken. Later in the disease, the heart and respiratory muscles weaken.

  • Diagnosis

    Your doctor will ask about your child’s symptoms and medical history. A physical exam will be done. Your doctor will also ask if there is any family history of neuromuscular disease. The exam will focus on your child’s muscles. The doctor will look for signs of weakness. You will likely be referred to a specialist.

    Your child's bodily fluids and tissues may be tested. This can be done with:


    • Muscle
      biopsy
    • Blood tests


    Your child's nerves and muscles may be tested. This can be done with
    electromyography
    (EMG).

    EMG of the Shoulder
    EMG shoulder 2
    © Nucleus Medical Media, Inc.

  • Prevention

    There are no known guidelines to prevent this progressive muscle disease.

  • Risk Factors

    These factors increase your child’s chance of having DMD:

    • Family history
    • Male

  • Symptoms

    Symptoms of DMD may include:

    • Child is late in learning to walk
    • Larger than normal calf muscles
    • Frequent falls
    • Clumsy walking
    • Difficulty climbing stairs
    • Trouble running
    • Walking on toes or balls of feet
    • Trouble with balance
    • Walking with shoulders back and belly out
    • Trouble keeping up with friends when playing
    • Learning disabilities
    Contracture of the Hand
    IMAGE
    © Nucleus Medical Media, Inc.

  • Treatment

    Talk with your doctor about the best plan for your child. The disease worsens over time. Your child may need different treatments as the disease progresses. Options include the following:

    Therapy plays a large role in treating DMD. Your child will work with a therapist to try to keep muscles strong.

    The disease causes contractures. This is when a muscle shortens, making it difficult to move. The therapist will focus on preventing this with range of motion exercises.

    Scoliosis is common in DMD. Exercises can help to keep the back as straight as possible.


    Braces are used to keep the legs straight and prevent contractures. A
    walker
    and
    wheelchair
    may be needed later when the leg muscles become too weak to walk.