Facioscapulohumeral Dystrophy

This disease is less severe than Duchenne muscular dystrophy and appears later in life. The average age of onset of the disease is thirteen years (it varies between nine and twenty) and sufferers have a normal lifespan, being incapacitated only in their later years

Symptoms

The muscles affected are those in the face and shoulders. Facial muscles are usually involved first, with a general flattening of features, difficulty in performing certain tasks, such as whistling, and involuntary mouth movements. The first real difficulty that sufferers encounter is in lifting their arms. Fortunately, though, the forearms remain strong. Facioscapulohumeral dystrophy, though inherited, is not sex-linked, and women and men may be equally affected.

Begins early in adult life and also affects both sexes. Its main feature is the inability of muscles to relax after a contraction, so that, for example, the sufferer is unable to let go after shaking hands. Although symptoms often differ from person to person, weakness typically occurs in the face and neck muscles. As well as muscular defects, other disorders such as cataracts, degeneration of the testes or ovaries, and mental retardation can occur.

Treatment of muscular dystrophy

Although there is no cure for muscular dystrophy, an affected person can be greatly helped by physiotherapy, aimed at keeping unaffected muscles healthy and aiding mobility. Psychological support for both the sufferer and his family is also essential.

Doctors and scientists are carrying out research to find a possible drug or treatment that will help those with Duchenne muscular dystrophy, but at the moment the main approach is to prevent the birth of such children. A satisfactory test may become generally available which, if positive in an unborn child, would offer the chance of abortion.

Couples at risk of having a baby with Duchenne muscular dystrophy (if the woman is a carrier, for example) have decide whether to take that risk or to remain childless. They are helped in this decision by experienced genetic counsellors who can tell them not only their chances of having such a child but also what it would mean in terms of treatment and their future life-style. Some couples decide to go ahead with a pregnancy, but may have an abortion if the fetus is discovered (by amniocentesis) to be a boy.