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The FSH Society Answers Questions About the New Gene for FSH Muscular Dystrophy
Date:1/24/2013

Boston, MA (PRWEB) January 24, 2013

Facioscapulohumeral muscular dystrophy (FSHD) is a disease most people have never heard of, even though it is one of the most common forms of muscular dystrophy. Having a name that is daunting to pronounce and spell doesn’t help. But being an “invisible” disease has its up side. Frustrated by the lack of scientific research on FSHD, two patients founded the FSH Society 22 years ago, and the nonprofit organization has since worked with singular focus to raise millions of dollars in funding for FSHD research. Research projects launched with seed grants from the Society contributed to the discovery of the genetic origins of the disease, and to better understanding of underlying biological mechanisms that could soon be targeted to treat FSHD.

Affecting an estimated half million people worldwide, FSHD robs people of their smiles as their facial muscles weaken. The shoulder blades jut out like wings and the spine collapses as the supporting muscles degenerate. Because it creeps up in fits and starts over many years, doctors often regard FSHD as “benign”, but that view is outdated, says FSH Society President Daniel Perez. Patients suffer from severe pain and disability, and may become unable to work or care for themselves as they lose the use of their arms and legs. And some, like Perez’s late mother Carol, pass away prematurely as their ability to breathe unaided becomes difficult.

Two years ago, an international team of researchers announced the discovery of an unusual genetic package linked to facioscapulohumeral muscular dystrophy (FSHD), the most common form of muscular dystrophy. This genetic abnormality consists of a loss of “D4Z4 repeat” DNA near the tip of chromosome 4 together with a DNA snippet called the “A
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