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Scientists discover cause of common muscular dystrophy

First time genetic problem found in human disease

Allhealth Public Relations

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 overactive. Abnormally shortened repeat DNA sequences on the end of chromosome 4 were first linked to the disorder in 1992. Tupler and her team have now found that the shortened region of these sequences interferes with the function of a protein complex that controls repression of genes. This leads to over-activity of several genes that may play a role in the disorder. This type of genetic problem has never before been identified in a human disease.

"For scientists, our research provides a starting point to think about therapeutic strategies," says Dr. Tupler. "For patients, it provides hope."


The study was funded by the FSH Society, the Muscular Dystrophy Association, and NIH's National Institute of Neurological Disorders and Stroke (NINDS). It appears in the August 9, 2002, issue of Cell.

The FSH Society is a 501(c)(3) nonprofit and tax-exempt U.S. corporation, organized in 1991, that addresses issues and needs related to FSHD. The Society promotes public awareness of the disease by providing research, education and advocacy worldwide. The FSH Society Internet web site is and promotes and describes Society collaborations with researchers, clinicians, individuals and families globally.

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