National Institute of Arthritis and

Musculoskeletal and Skin Diseases (NIAMS)





Thursday, November 13, 2001



Ray Fleming

Office of Communications and Public Liaison

(301) 496-8190





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



"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 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

"Conference 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