EGL Genetics Blog

EGL Supports Limb-Girdle Muscular Dystrophy Awareness Day

Posted by Derek Stevens on Sep 29, 2016 11:00:00 AM

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 Limb-girdle muscular dystrophy (LGMD) is a descriptive term applied to a clinically and genetically heterogeneous group of childhood- and adult-onset muscular dystrophies. LGMD is characterized by weakness and wasting restricted to the limb musculature; usually proximal muscles early on, then distal muscles later. There are more than 50 genes associated with LGMD that have various modes of inheritance. This, combined with a vast variability in age of onset, progression, and distribution of weakness, makes the diagnosis of a specific subtype of LGMD a challenge. And for some individuals, the science of genetics hasn’t caught up to their clinical diagnosis.

Meet Mark Barnett. Now 55 and 14 years past his clinical diagnosis of LGMD, Mark is still looking for answers. He has created a Facebook group, “Muscular Dystrophy Subtype Unknown,” for individuals with muscular dystrophy, who have been unable to achieve a genetic diagnosis. Mark’s mission is to help as many of his fellow LGMD friends as possible and get himself and every one of them a diagnosis. “I won’t give up on them even if I identify my own sub-type tomorrow,” he declares. Read more about Mark and find more information on LGMD at www.LGMD-Info.org.”

 

Also, Mark would like to add that his long-time fellow LGMD friend, Carol Abraham, is almost solely responsible for Limb-Girdle Muscular Dystrophy Awareness Day. Carol launched and administers the website, the Facebook page, and conducts all the spotlight interviews. Thank you, Carol, for the great work you do.

 

 

 

Topics: LGMD Awareness Day, LGMD, Limb-Girdle Muscular Dystrophy

 

 

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