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Duchenne's disease

  1. Duchenne's disease is a serious genetic disorder of the muscles. Duchenne's disease almost only occurs in boys. About 1 in 4,000 boys has this condition.

What is Duchenne's disease

  1. The disease arises because the gene that makes muscle protein dystrophin is damaged. Dystrophin is an important constituent of the membrane around the muscle fibers. Almost all patients are boys, this is because the dystrophin gene is located on the X chromosome, of which boys have only one. Girls who carry a damaged dystrophin gene usually have a healthy gene on the other X chromosome. Girls can have mild symptoms of the disease.

Treatment of the disease

  1. Duchenne's disease can be prevented by prenatal diagnosis. It is performed with a villus test or an amniocentesis. Physical therapy tries to relieve the symptoms. Orthopedic surgeries can extend the time the child can walk.

Future

  1. People with Duchenne's disease cannot be completely cured yet. But the first step towards healing has been taken!



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