Scientists discover cause of common muscular dystrophy

Scientists have discovered the genetic cause of facioscapulohumeral muscular dystrophy (FSHD), the third most common form of muscular dystrophy. The finding may solve a decade-old mystery about the origin of this crippling disease and lead to the first effective treatments for tens of thousands of Americans.

"Speaking as patient, this discovery is very exciting and it gives hope for a cure. The findings are the first major breakthrough for understanding the mechanism causing FSHD," says Daniel Perez, President and CEO of Facioscapulohumeral Muscular Dystrophy Society (FSH Society), which initiated and continues funding of the research. "With this major step, we now have a starting point for developing therapeutic tools."

Perez, who founded the Society in 1991, is a FSHD patient himself who now requires the use of a wheelchair as a result of the disease. Since 1998, the FSH Society has funded more than $800,000 in FSHD projects from its grassroots network of patients and families. The FSH Society is the largest research organization solely dedicated to FSHD research and has produced significant breakthroughs in less than four years.

People with FSHD have progressive and severe loss of skeletal muscle that primarily affects the face, shoulder blades and upper arms making it difficult to lift the arms or even smile. Progressive weakness of other muscles make it difficult to walk. Eye and hearing diseases are often associated with the disorder that affects one in 20,000 Americans. Many FSHD patients are severely disabled and need to use wheelchair for many decades.

In the new study, Rossella Tupler, M.D., Ph.D., of the University of Massachusetts Medical School in Worcester and the Universita' degli Studi di Pavia in Pavia, Italy, and colleagues studied human muscle tissue from unaffected individuals and from people with FSHD. The researchers found that FSHD occurs when a missing piece of DNA allows nearby genes to become overac

Contact: Brian Ruberry
Allhealth Public Relations

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