NIAMS, NINDS fund multiple research grants in facioscapulohumeral dystrophy

December 13, 2001

Research on facioscapulohumeral muscular dystrophy (FSHD), a genetic disease of skeletal muscle, received a boost from the award of six new grants by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health. The grants, totaling $1.1 million, support both basic and clinical research studies.

"These projects serve to increase the understanding of this disease and to develop better therapies, and ultimately, find ways to prevent the disorder," said NIAMS Director Stephen I. Katz, M.D., Ph.D. "We are encouraged by the hope that they bring to people with facioscapulohumeral muscular dystrophy and their families."

FSHD is the third most common genetic disease of skeletal muscle, affecting approximately one in 20,000 persons. Symptoms may begin during infancy, late childhood or early adulthood. The first sign is usually facial weakness, with difficulty smiling, whistling and closing the eyes. Later there is difficulty raising the arms or flexing the wrists and ankles. This disease occurs in both sexes and in all racial groups.

The new NIAMS-funded studies include:

Molecular Pathophysiology of Facioscapulohumeral Muscular Dystrophy via Genome-Wide Approaches, Yi-wen Chen, Ph.D., Children=s Research Institute, Washington, D.C. This study will compare clinically affected versus unaffected muscles to help determine the primary cause of FSHD. Disease-specific gene alterations will also be identified using a broad set of genes. Further studies may determine how these gene alterations may affect the severity of the disease.

Llama-Derived Phage Display Antibody Arrays for FSHD, Silvere M. Van Der Maarel, Ph.D., Leiden University Medical Center, Al Leiden, Netherlands. Muscle-specific animal antibodies will be used to study FSHD pathophysiology in tissues and cell cultures of patients and controls. This project will ultimately attempt to gain insight into the cellular and molecular processes leading to neuromuscular system dysfunction in FSHD patients.

Pathogenesis of Facioscapulohumeral Dystrophy, Denise A. Figlewicz, Ph.D., University of Rochester, Rochester, N.Y. The aim of this project is to develop a better understanding of the cause of FSHD. The project will seek to determine the abnormal intracellular processes in FSHD muscle cells. Study results may help in the development of intervention strategies for long-term therapeutic effects.

The new NINDS-funded studies include:

Analysis of the Molecular and Functional Role of D4Z4 in FSHD Pathogenesis, Rossella G. Tupler, M.D., University of Massachusetts Medical School, Worchester, Mass. This project aims to use studies of a specific gene sequence to explain the cause of FSHD. The studies will provide information to understand the molecular basis of FSHD and to develop effective therapeutic strategies.

The Sarcolemma in FSHD and in the myd Mouse, Robert Bloch, Ph.D., University of Maryland, Baltimore, Md. This study will use animal models and biopsies of human skeletal muscle to better understand the biological changes that occur in FSHD skeletal muscle. These changes will be analyzed to determine if they are related to the pathophysiology of FSHD and will be used in comparison with other human muscular dystrophies. Aims of this research include determining if the biomechanical properties of the membranes that surround muscle fibers are compromised by FSHD.

FSHD Syndrome: DNA Repeats, Methylation, and Chromatin, Melanie Ehrlich, Ph.D., Tulane University Health Science Center, New Orleans, La. This study will explore whether a change in genetic structure causes inappropriate gene expression in muscle cells affected by FSHD. Researchers hope that this will provide an understanding of the molecular cause of this disease.
Funding for these projects comes on the heels of the AConference on the Cause and Treatment of Facioscapulohumeral Muscular Dystrophy,@ held at the NIH in May 2000. This conference was co-sponsored by the NIAMS, the NINDS, the NIH Office of Rare Diseases, the FSH Society, Inc., and the Muscular Dystrophy Association of America. A summary of the conference is located at

The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases 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, please call (301) 495-4484 or (877) 22-NIAMS (free call) or visit the NIAMS Web site at

The mission of the National Institute of Neurological Disorders and Stroke is to reduce the burden of neurological disease-a burden borne by every age group, by every segment of society, by people all over the world. For more information about NINDS, please call (301) 496-5751 or (800) 352-9424 or visit the NINDS Web site at

For more information on facioscapulohumeral muscular dystrophy, contact the following organizations:

Facioscapulohumeral Dystrophy (FSHD) Society
3 Westwood Road
Lexington, MA 02420
Tel: (781) 860-0501
Fax: (781) 860-0599

Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
Tel: (520) 529-2000 or (800) 572-1717
Fax: (520) 529-5300

Muscular Dystrophy Family Foundation
2330 North Meridien Street
Indianapolis, IN 46208
Tel: (317) 923-6333 or (800) 544-1213
Fax: (317) 923-6334

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

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