Muscular Dystrophy

Muscular Dystrophy

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Discovered in 1861 by Guillaume B.A. Duchenne, muscular dystrophy is a very unfortunate disease to inherit. Muscular dystrophy is a group of heredity disorders characterized by progressive muscle weakness and wasting. The trait for muscular dystrophy may be transmitted as an autosomal dominant. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of inheriting the trait. Muscular dystrophy is also a sex-linked trait. If someone carrying the trait for the disease conceived a male, the newborn boy would have a very high risk of later on developing the disease. Incidence of muscle dystrophy is estimated to be one in 3-4,000 male births. There are also about 15,000 muscular dystrophy patients in the United States at any given time. Those who have muscular dystrophy are missing the protein called ?dystrophin.? Before scientists ever discovered the missing protein, the tested carriers for the disease had a high presence of elevated serum levels of creatine and phosphokinase. The disease can now be found for a prenatal diagnosis. Individuals who inherit this disease will have a rapid progression of symptoms. Walking becomes difficult, and skeletal contractures and muscle atrophy follows. They also usually need wheelchairs by adolescence. Half of the receivers of the disease unfortunately develop some form of mental retardation and most never make it past there teenage years. Currently, options for a treatment of muscular dystrophy are limited. Physical therapy may slow down the progression of deformities. Such devices as wheel chairs, crutches, or secondary orthopedic limbs may permit mobility. There are also a few medications that can help relieve pain and stiffness in the muscles. The Muscular Dystrophy Association, the Parent Project Muscular Dystrophy Research and the Children's Hospital of Pittsburgh helped fund a research project for the disease. The research, carried out by Johnny Huard, Ph.

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D., is looking fairly successful. Scientists have isolated special muscle-generating stem cells that can improve muscle regeneration and deliver the missing protein dystrophin to damaged muscles in a mouse muscular dystrophy model. They soon hope to be able to place these muscle cells in patients with muscular dystrophy problems. If they are truly successful with this, it will save thousands of precious lives. As for now though, we can only hope that a cure for this debilitating and horrible hereditary disease will be developed.
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