National registry established for two muscular dystrophy types

December 10, 2000

People with myotonic dystrophy (DM) and facioscapulohumeral dystrophy (FSHD) and their families will benefit from a new national research registry established by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Neurological Disorders and Stroke (NINDS), both parts of the National Institutes of Health (NIH). The registry will be based at the University of Rochester, Rochester, N.Y.

Registry scientists will seek out and classify patients with clinically diagnosed forms of DM and FSHD, and store their medical and family history data. The registry will also be a central information source where researchers can obtain data for analysis associated with these diseases.

The registry's scientific advisory committee will make recommendations about enrollment criteria, monitor and improve ways to recruit patients and investigators, and assess progress. It will also revise and extend methods for collecting and handling data and determine possible clinical studies.

NIAMS Director Stephen I. Katz, M.D., Ph.D., said, "This national registry will be an important resource to provide hope to families and encourage scientists in finding a cure for these two disabling diseases. It will also hasten the course of research for more in-depth answers to what happens in muscular dystrophy."

Richard Moxley III, M.D., is the lead investigator for the registry. AResearch has uncovered recent clues to genetic, chromosomal and DNA errors in those with DM and FSHD," he said. AI am pleased to lead scientists in collecting and analyzing new research data for better treatments for these two diseases."

DM and FSHD are two of the nine types of muscular dystrophy. They can be detected through testing at birth, and may be passed from one generation to the next. Both cause progressive, disabling weakness. In addition, DM sometimes results in sudden death.

DM is divided into four different types, all of which are accepted by the registry: congenital, juvenile, adult and late onset. It is marked by a generally slow progression of weakness and muscle wasting affecting the face, feet, hands, neck and glandular system. Muscles are unable to relax properly after contraction. DM affects both males and females. The cause is unknown.

FSHD is marked by weakness in the facial muscles and weakness and wasting in the shoulders and upper arms. It may progress either slowly or rapidly. FSHD affects both males and females, and a child from an affected parent has a 50 percent risk of inheriting the disease. It is the third most common genetic disease of skeletal muscle. The cause is unknown.
Patient enrollment for the registry is currently projected to begin in fall 2001. The project is funded under NIH contract # N01-AR-02250.

The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) is a component of the National Institutes of Health. The mission of the NIAMS is to support research into the causes, treatment and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. For more information about NIAMS, call our information clearinghouse at 301-495-4484 or 877-22-NIAMS (free call) or visit the NIAMS web site at

To be placed on a list to receive information when registry enrollment begins, contact:

Lynn Cos, R.N., C.C.R.C.
Neuromuscular Disease Center
University of Rochester
601 Elmwood Avenue, Box 673
Rochester, NY 14642

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

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