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Muscular Dystrophy

What is Duchenne Muscular Dystrophy?

The type of Muscular Dystrophy that Doug has is known as Duchenne Muscular Dystrophy - or DMD.  DMD is a genetic disorder caused by a mutation in the X chromosome.  This mutation makes the body unable to produce the dystrophin protein.  This deficiency, in turn causes muscle cells to die.  These muscle cells are eventually replaced by fatty or connective tissue.

In a DMD patient like Doug, symptoms begin early - often by age 3 or 4.  By the age of 10, many patients are unable to walk without leg braces.  By the age of 12, most are confined to a wheelchair. The circulatory and respiratory systems also rely on muscle strength, and are not immune to the effects of DMD.  The condition is terminal, usually before the age of 30.  Doug is currently 6 years old.

DMD occurs in approximately 1 out of every 3,500 boys.

For more information, click "Read more" and follow the links.

Read more...
 

What about treatment?

There is no known cure for DMD - yet.  Research is ongoing, and there are numerous promising trials underway - but as of right now, DMD has a 100% mortality rate.

There are treatments, however, which are improving the quality of life for many DMD patients.  Corticosteroids are often used to increase energy and strength temporarily, and hopefully allow the patient a couple more years of walking.  Physical therapy and braces work together to fight side effects of the weakening muscles and provide a more functional life.  None of these treatments is without side-effects, and making decisions on how to progress is extremely stressful on both the patient and their family.

Research is ongoing into both treatments and cures.  Please consider funding (or advocating for funding) of this important research. Muscular Dystrophy research doesn't receive the same level of financial support that other "mainstream" diseases like cancer do.

 



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