The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.
Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.
Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.
Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.
Signs and Symptoms
Myotonic muscular dystrophy (which affects adults) is accompanied by the following signs and symptoms.
- Delayed muscle relaxation after contraction
- Impaired nourishment of non-muscular tissue
- Weaknesses in the facial muscles, arms and legs, and muscles affecting speech and swallowing
- Baldness in men and women
- Intellectual impairment
- Respiratory problems
- Heart abnormalities in early adulthood
Although Duchenne MD is present at birth, signs and symptoms do not usually appear until the child is 3 to 5 years of age. They include the following.
- Frequent falls
- Difficulty running, jumping, and getting up from a sitting or lying-down position
- Large calf muscles
- Weakness in the lower extremities
- Mild mental retardation
Breathing difficulties and a chronic disorder of heart muscles develop during adolescence, usually after the individual becomes wheelchair-bound.
Muscular dystrophy is caused by gene mutations that are particular to each form of the disease.
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