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Duchenne muscular dystrophy

  • Alternative Names

    Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type


    Symptoms

    Symptoms usually appear before age 6 and may appear as early as infancy. They may include:

    • Fatigue
    • Mental retardation (possible, but does not worsen over time)
    • Muscle weakness
      • Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body
      • Difficulty with motor skills (running, hopping, jumping)
      • Frequent falls
      • Rapidly worsening weakness
    • Progressive difficulty walking
      • Ability to walk may be lost by age 12

    By age 10, the person may need braces for walking. By age 12, most patients are confined to a wheelchair.


    Signs and tests

    A complete nervous system (neurological), heart, lung, and muscle exam may show:

    • Abnormal heart muscle (cardiomyopathy)
    • Congestive heart failure or irregular heart rhythm (arrhythmias) -- rare
    • Deformities of the chest and back (scoliosis)
    • Enlarged calf muscles, which are eventually replaced by fat and connective tissue (pseudohypertrophy)
    • Loss of muscle mass (wasting)
    • Muscle contractures in the heels, legs
    • Muscle deformities
    • Respiratory disorders, including pneumonia and aspiration of food or fluid into the lungs (in late stages of the disease)

    Tests may include:

    • Electromyography (EMG)
    • Genetic tests
    • Muscle biopsy
    • Serum CPK