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Muscular Dystrophy

Muscular dystrophies include several inherited conditions in which there is progressive weakening of the muscles. There are about six main types of muscular dystrophy and several rarer forms. The different types are characterized by how the disorder is inherited, the age of onset of the disease, the changes occurring in the muscle structure. and the groups of muscles affected.

The common feature of all forms of dystrophy is the way the muscles become weakened: individual fibres within the muscles begin to break up and degenerate, and the damaged tissues are removed by the body and replaced by non-muscular fibrous tissue and fat cells. A few undamaged muscle fibres remain betWeen the destroyed fibres but these, too, may later become affected.

Of the many forms of dystrophy known. the most important are Duchenne (pseudo-hypertrophic) dystrophy, facioscapulohumeral dystrophy and myotonic dystrophy.

Duchenne dystrophy

This is the most common and most severe form of the disease. It is an inherited sex-linked condition. which means that it is passed to offspring on the X chromosome. Since girls have two X chromosomes, an abnormal one is masked by the second, so instead of suffering the disease girls are carriers; they can pass the disease on to their sons. Since boys have only one X chromosome its effect cannot be counteracted, so 'that if it is abnormal the symptoms of the disease will be manifested: therefore only boys have this type of muscular dystrophy. The disease may actually begin in the fetus, yet it does not develop fully until the second or third year of life. Before this age it can be diagnosed by an enzyme test.

Symptoms

At first the boy's muscular development may appear normal. But when the disorder begins the child will experience difficulty in getting up from the floor and has an awkward walk because the muscles in the thighs and pelvis are the first to be affected. Later the muscles in the trunk become involved and the weakness increases. The forearm, hands and feet remain strong, and the face is unaffected until late stages of the disease. By the age of ten, however, the child is usually confined to a chair or to a bed; death usually occurs from heart failure, obesity or pulmonary infection by the age of twenty.

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