What is Duchenne Muscular Dystrophy?
Duchenne Muscular Dystrophy, like all muscular dystrophies, causes weakening of the muscles. DMD is a recessive genetic mutation that occurs on the X chromosome. As a result, it almost exclusively affects boys Unfortunately for the boys who have been diagnosed with DMD, it is the most severe of all the muscular dystrophies:
- Boys with this disease are diagnosed earlier, usually between 3 and 5 years of age.
- They lose muscle function more quickly, many boys are in wheelchairs by 10-12.
- They die earlier, most boy’s with DMD die in their mid 20’s.
Since Gus’ diagnosis, many well-meaning people have tried to reassure us that they know someone in their 40’s, 50’s or 60’s with muscular dystrophy. We have to let those folks know that anyone living into their 40’s or 50’s does not have Duchenne Muscular Dystrophy. They may have another type of MD, as there are 45 different permutations of this disease, but no one with DMD lives that long.
Boys with DMD are unable to produce a functional dystrophin protein. Because they lack this protein, boys with DMD first lose their skeletal muscle function, then they lose their smooth muscle function (smooth muscles include the heart and diaphram).
DMD is currently 100% fatal. There is no cure and no truly effective treatment. Occasionally, a young man with DMD may live into his early thirties, but he will be in a wheelchair, he will need assistance breathing and he will live with the constant risk of heart failure.
There is no cure for DMD, but there is HOPE. Research is promising – very promising. Strategies range from helping the cells produce a partial dystrophin protein by skipping exons, to encouraging the cell to produce, or upregulate, utrophin, a protein similar in function to dystrophin. Cells produce utrophin in utero but stop producing it at birth, so researchers are trying to figure out ways to turn it back on.
Researchers also continue to explore the use of stem cell therapies, but those are still a ways off before they are clinically viable.
Researchers are also exploring the benefits of nutraceuticals, or nutritional supplements such as CoQ10, creatine, argenine and glutamine, that may help preserve muscle strength and muscle fibers.
All of this suggests that a cure is coming – sometime in the future; our goal is to make that time much sooner. When we consider that Gus has just 5-8 years until he loses his ability to walk, it makes us that much more determined to push the researchers. As our mission states, we will work to leverage every donation to better support research that will cure DMD.