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New center to lead international muscular dystrophy research effort
Date:10/25/2007

and sustainable family farm-based system of agriculture throughout the country.

I have a personal family connection to FSHD, so I know the impact it has on families throughout the United States and the world, said Fields. The University of Rochester has long been a leader in muscular dystrophy research, so they were a natural fit to establish a center to focus on genetic and clinical research to FSHD patients. I see this gift as a significant step in giving this disease the medical attention it deserves, and hope that the Fields Center will be a center for leadership and innovation in the field for many years to come.

FSHD is one of the more common forms of muscular dystrophy. Most symptoms do not appear until the teen years, but the disease does also appear, albeit more rarely, in very young children and infants. The condition, which is genetic in origin, is characterized by a progressive weakness of muscles starting in the face, shoulder blades and upper arms. The age of onset, progression, and severity of FSHD vary and most individuals with the disease have a normal lifespan. However, as the disease progresses it can become debilitating; some 30 percent of patients eventually become wheelchair bound. Over time, the muscle weakness can also spread to other parts of the body.

While the disease is understood to be genetic in origin, the precise mechanism is unknown. It is related to a defect on chromosome 4 that in turn causes a genetic and molecular chain reaction that that results in progressive muscle wasting. Scientists have developed several theories over the years some complementary and others contradictory but efforts to resolve these differences and reach a consensus have stalled.

This is a very difficult disease to figure out in terms of what is going on, said URMC neurologist Rabi Tawil, M.D., director of the Fields Center. Research has been hampered by the fact that there are very few centers involved an
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Contact: Mark Michaud
mark_michaud@urmc.rochester.edu
585-273-4790
University of Rochester Medical Center
Source:Eurekalert

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