Muscular Dystrophy


Muscular dystrophy is a term used to describe a number of inherited disorders characterized by progressive weakness and wasting of the muscles. The most common and severe type is Duchenne's muscular dystrophy (MD), in which a genetic defect leads to the formation of an abnormal type of muscle protein called dystrophin. The types of MD are classified according to the location of the muscles involved, the age that symptoms appear, the rate that symptoms progress, and the manner in which the defective gene is passed on. For example, the genes for Duchenne's and Becker's MD are X-linked recessives - that is, they generally affect only boys but are carried and passed on by women. Principle symptoms include: progressive muscle wasting, weakness, and loss of function; in Duchenne's MD, delayed development of basic muscle skills and coordination in children - common signs include poor balance with frequent falls, walking difficulty with waddling gait and calf pain, and limited range of movement; obesity; joint contracture; cataracts, frontal baldness, drooping eyelids, gonadal atrophy, and mental impairment. There is no specific treatment or cure to halt MD. Physical therapy, exercise, orthopedic appliances (such as braces and wheelchairs), or corrective orthopedic surgery may help preserve muscle function and prevent joint contractures as much as possible and improve quality of life. In 1993, researchers announced in a landmark discovery that gene therapy can help prevent muscle destruction and preserve muscle function in Duchenne and Becker muscular dystrophies.

Who is at Risk?

Muscular dystrophy is a genetically determined disease, although why the individuals who are genetically the same get MDs of different severity is not known.

Source: Health Scout Network

Recent Muscular Dystrophy Research and News at The Scripps Research Institute

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