Case #28 Dystrophin Isoform and Muscular Dystrophy

Muscular dystrophy is caused by mutation of the gene DMD, which codes the protein dystrophin. It was first discovered in 1830 by Sir Charles Bell (1774-1842), a neuroscientist who also discovered Bell's palsy.

Sir Charles Bell

In the US, approximately 40,000 boys and young men are affected with the disease. 1 in 8,000 are affected worldwide. It equally affects all ethnicities and races, though males are more likely to be affected than females. It typically occurs within a younger population, as well.

Symptoms of muscular dystrophy are difficulty walking, deposits of fat in the calves, scoliosis, lung infections, and in some cases, mental retardation. It can be indentified by characteristic muscle weakness and is diagnosed via molecular genetic testing. Treatment includes use of steroids, braces, physical therapy, moderate exercise, and in some cases, surgery.

There is no present cure for this disorder. It is possible that those diagnosed can live long lives with the assistance of treatment, though some cases result in being confined in a wheelchair. The gene mutates in the X chromosome of the mother, and it is a autosomal dominant. Research on the disease is being slowed by new limitations on the research of biomaterials, but scientists are still attempting to advance the process.

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