Duchenne muscular dystrophy (patient information)
For the WikiDoc page for this topic, click here
Duchenne muscular dystrophy
Duchenne muscular dystrophy On the Web
Synonyms and Keywords: Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type
Duchenne muscular dystrophy is an inherited disorder that involves rapidly worsening muscle weakness.
What are the symptoms of Duchenne muscular dystrophy?
Symptoms usually appear before age 6 and may appear as early as infancy. They may include:
- 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.
What causes Duchenne muscular dystrophy?
- Duchenne muscular dystrophy is a rapidly-worsening form of muscular dystrophy. Other muscular dystrophies (including Becker's muscular dystrophy) get worse much more slowly.
- Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). However, it often occurs in people without a known family history of the condition.
- Because of the way the disease is inherited, males are more likely to develop symptoms than are women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers.
- Duchenne muscular dystrophy occurs in approximately 1 out of every 3,600 male infants. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.
When to seek urgent medical care?
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
- 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
- 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 bedrest) 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.
Where to find medical care for Duchenne muscular dystrophy?
What to expect (Outlook/Prognosis)?
- Duchenne muscular dystrophy leads to quickly worsening disability.
- Death usually occurs by age 25, typically from lung disorders.
- 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
- 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.