Symptoms of Duchenne Muscular Dystrophy
Symptoms usually appear before age 6 and may appear as early as infancy. They may include:
- Tiredness and 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 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 BMD are confined to a wheelchair.
Exams and Tests for Duchenne Muscular Dystrophy
A complete nervous system (neurological), heart, lung, and muscle exam may show:
- Abnormal heart muscle (cardiomyopathy)
- Congestive heart failure or irregular heart rhythm (arrhythmias)
- 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 virus, including pneumonia and food aspiration or fluid in the lungs (late stages)
Tests may include:
- Electromyography (EMG)
- Genetic tests
- Muscle biopsy
- Serum CPK
Treatment for Duchenne Muscular Dystrophy
There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to maximize quality of life. Gene therapy may become available in the future.
Activity is encouraged. Inactivity (such as bed rest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability to care for yourself.
Support Groups for Duchenne Muscular Dystrophy
You can ease the stress of illness by joining a support group where members share common experiences and problems. The Muscular Dystrophy Association is an excellent source of information on this disease.
Outlook / Prognosis for Duchenne Muscular Dystrophy
Duchenne muscular dystrophy leads to quickly worsening disability. Death usually occurs by age 25, typically from lung disorders.
Possible Complications of Duchenne Muscular Dystrophy
- Congestive heart failure (rare)
- Heart arrhythmias (rare)
- Mental impairment (varies, usually minimal)
- Permanent, progressive disability
- Decreased mobility
- Decreased ability to care for self
- Pneumonia or other respiratory infections
- Respiratory failure
When to Contact a Medical Professional
Call your health care provider if:
- Your child has symptoms of Duchenne muscular dystrophy
- Symptoms worsen, or new symptoms develop, particularly fever with cough or breathing difficulties
Prevention of Duchenne Muscular Dystrophy
Genetic counseling is advised if there is a family history of the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.