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,
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
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
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 http://www.nih.gov/niams.
To be placed on a list to receive information when registry enrollment
Lynn Cos, R.N., C.C.R.C.
Neuromuscular Disease Center
University of Rochester
601 Elmwood Avenue, Box 673
Rochester, NY 14642