A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Saturday, February 9, 2013

Rare Disease 9 - Duchenne muscular dystrophy

From Wikipedia:

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 a video:




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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