Muscular Dystrophy – Causes, Symptoms, Treatment …

Posted: Published on July 4th, 2015

This post was added by Dr Simmons

(Duchenne Muscular Dystrophy, Becker's Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophies) The Facts on Muscular Dystrophy

Muscular dystrophy is a term that refers to a group of muscle disorders in which the face, arm, leg, spine, or heart muscles gradually shrink and weaken over time. This can lead to many physical limitations, and in some forms of muscular dystrophy, shortened life spans. Muscle disorders run in families, and most forms start in childhood.

There are a variety of types of muscular dystrophy, including:

The different types are distinguished by factors such as the:

Muscular dystrophy is rare. For example, although Duchenne Muscular Dystrophy is one of the more common types, it occurs in only 1 out of every 50,000 people. The other types of muscular dystrophy are even rarer.

All muscular dystrophies are inherited. Each type of muscular dystrophy is associated with a distinct genetic mutation. The nature of the gene mutation and which chromosome it is located on determine the characteristics of the muscular dystrophy and the way the disease is passed from one generation to the next.

The gene responsible for Duchenne and Becker's muscular dystrophies normally produces a protein called dystrophin, which helps muscle cells keep their normal shape and function. The faulty gene that causes muscular dystrophies either does not produce enough dystrophin or produces dystrophin that doesn't work properly. This gene is located on the X chromosome.

Women have two X chromosomes, but men have only one X chromosome (men also have a Y chromosome, which does not have a copy of the dystrophin gene). Girls don't usually get the disease because the healthy gene on one X chromosome can produce enough normal dystrophin to compensate for the defective gene on the other X chromosome. They often show no symptoms of muscular dystrophy. Boys who inherit the defective gene are not so lucky since they do not have another copy of the good gene and are not able to make enough dystrophin to keep their muscles healthy.

A woman who has the abnormal gene is called a carrier. Each of her children (boy or girl) has a 50% chance of getting the gene from her. If the child is a boy and inherits the defective gene, he will develop the muscle disease. If it is a girl, she will be a carrier who can then pass the gene on to her own children.

Any woman in an affected family can be tested before deciding to get pregnant to find out if she is a carrier. If she is not a carrier, she cannot pass the disease on to any of her children. A fetus can also be tested for the disease during pregnancy.

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