September is Muscular Dystrophy Awareness Month
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| Posted on September 18, 2020 at 22:55:46 | ||
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Posts: 6622
Location: Eastern Massachusetts Joined: July 4, 2000 |
And September 30 is Limb Girdle Muscular Dystrophy Awareness Day. As some of you know, I have an adult-onset form of LGMD called "dysferlin deficiency" or "dysferlinopathy" because mine is caused by a mutation in both copies of my DYSF gene and a resulting absence of functional dysferlin protein. Dysferlin is one of many proteins that helps maintain muscle cell integrity. Originally designated as LGMD2B, dysferlinopathy has been redesigned as LGMDR2. The R stands for recessive (you need two bad copies to get the disease - one from each parent) and the 2 means the related gene, DYSF, was the second to be discovered. (Funny story is that LGMD2B meant the same thing - 1 meant dominant and 2 meant recessive, and the letter of the alphabet stood for the order of discovery. That was all well and good until they ran out of letters after finding waaaay more than 26 different types of LGMDs. Silly scientists! LOL.) So, those of us with an LGMD have been asked to spread the word. A patient organization called LGMD Awareness Foundation, Inc. came up with a new mascot called Girdie, a so-called limeoji. Why a lime? Because LG can also stand for lime green or light green, which we've adopted as our color. I was tangentially involved in the creation of Girdie, but couldn't resist the urge to make an evil twin before posting this picture on Instagram. Believe me, I'm going to make more R rated versions for my patient friends! If you're interested in learning more about these rare forms of muscular dystrophies, and the amazing group of people spreading the word and involved in patient advocacy, please check out the link below and, of course, feel free to share the word.  ___ "If you are the owner of a new stereophonic system, this record will play with even more brilliant true-to-life fidelity. In short, you can purchase this record with no fear of its becoming obsolete in the future."
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