Muscular dystrophy (MD) is a rare group of genetic muscle diseases related to the absence of certain essential muscle fiber components, causing progressive weakness.
Symptoms usually start in childhood or early adolescence. Certain muscular dystrophies can affect other organs, including the heart.
The rate of the progression or pattern depends on the type of dystrophy. Some can progress slowly and others confine the patient to a wheelchair within a few years. The most common muscular dystrophies seem to have an inherited deficiency of a muscle protein called dystrophin.
More than 50,000 people in the United States have one of the various forms of muscular dystrophy.
Generally symptoms start out by affecting the voluntary muscles, which gradually get weaker.
Children may be slow to walk or to master certain motor activities. They may have weakness initially in the muscles closer to the body and then gradually develop problems in their hands and feet, as well as in the respiratory and cardiac muscles.
Other symptoms include frequent falling, problems walking, eyelid drooping, drooling, muscle and skeletal deformities and scoliosis. Muscle fibers may be replaced by fat and connective tissue in the later stages of the disease.
Certain MDs, such as Duchenne dystrophy, may ultimately be fatal, while others have muscle weakness that causes the person little disability.
After thorough physical and neurological examinations, other testing may be required. In some cases, other problems may be ruled out.
Those tests include blood tests, electromyography (EMG) to test single muscle fibers, nerve conduction studies, an electrocardiography to monitor cardiac changes and a muscle biopsy to help with the diagnosis.
Controlling the symptoms and maximizing the quality of life are the goals of treatment.
Steroids can sometimes help slow the progression of the disorders.
Activity is encouraged, depending on the patient. Physical therapy can help with muscle strength and functioning, as can orthopaedic appliances like braces and wheelchairs.
Muscular dystrophy gradually worsens and can eventually cause mental impairment.
A major jump in the research of muscular dystrophy came in 1986 with the identification of the gene for a specific type of MD.
Since then scientists have been working to identify the genes and the proteins that cause other muscular dystrophies. Studies are working to figure out ways to insert new genes or to compensate for the gene defect.
Steroids are also being investigated to slow or reverse the progression of the disease.
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