Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and eventual death.[1] The disorder is caused by a mutation in the dystrophin gene, located on the human X chromosome, which codes for the protein dystrophin, an important structural component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. While both sexes can carry the mutation, females rarely exhibit signs of the disease.
The FDA is hosting a webinar on February 20, 2013
Duchenne
Muscular Dystrophy Patient Advocacy Community Therapies
Webinar
on Expedited Pathways and Expanded Access
Wednesday,
February 20, 2013
4:00
p.m. Eastern
Here is an article about a mother who is fighting to get an experimental treatment for one of her two sons with the disease. One son is on on the treatment, the other is not, because of the different progression of the disease.
The "cheat sheet" about DMD from the National Library of Medicine is here.
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DMD is just one of 7,000 rare diseases, most without cures and very
few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.Rare Disease Day is February 28, 2013.
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Jill - thank you again for posting on these diseases. Some I am familiar with, some I've never heard of. But from following the NPA and San Filippo blogs, I become so much more aware of the frustration families of rare disease sufferers deal with on a day-to-day basis. Many years ago, when my girls were pre-school age, we had a young man in our town with MDM. My most vivid memory of Dustin is him giving my kids rides down the sidewalk in his wheelchair. He passed away at the age of 15. I am delighted to see the experimental treatment that is taking place. Once again - thanks for these posts. You are a champion! xoxo
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