Symptoms & Signs
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.
Diagnosis & 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
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Duchenne muscular dystrophy : Overview, Causes, & Risk Factors
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Duchenne muscular dystrophy : Symptoms & Signs, Diagnosis & Tests
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Duchenne muscular dystrophy : Treatment
Review Date : 3/9/2010
Reviewed By : Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; Daniel B. Hoch, PhD, MD, Assistant Professor of Neurology, Harvard Medical School, Department of Neurology, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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