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What Causes Duchenne

One of our largest known genes, dystrophin is an important muscle protein that acts as a kind of glue, holding muscles together by maintaining the structure of muscle cells.

Dystrophin is also believed to carry signals between the inside and outside of muscle fibers. Without dystrophin, muscles are unable to operate properly, and eventually suffer progressive damage.

The dystrophin gene is carried on the X-chromosome. Boys have only one X-chromosome, making them more susceptible to dystrophin damage, as they lack a second X-chromosome to make up for the damaged gene.

When a boy’s body is not able to produce any dystrophin at all, he is diagnosed with Duchenne. In Becker muscular dystrophy, a shortened form of dystrophin is generated.

Duchenne is usually passed from parent to child, but many cases are the result of random spontaneous genetic mutations, which can occur during any pregnancy. In fact, about one out of every three cases occurs in families with no previous history of Duchenne.

Learn more about How Duchenne is Identified, or visit our page for Mothers if you think you may be a carrier.

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