What is Muscular Dystrophy?
The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement, and in some cases cardiac muscle. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. They differ in their age of onset, penetrance, severity, and pattern of muscles affected. Many dystrophies also affect other organ systems such as the brain, blood vessels, muscles of respiration and gastrointestinal tract.
Is there any treatment?
Treatments such as physical therapy, use of appliances for support, corrective orthopedic surgery, and drugs can reduce symptoms and improve quality of life for some individuals. Currently, no treatment can stop or reverse the progression of any form of muscular dystrophy. However, exciting therapies are currently under development for several forms of muscular dystrophies, and several potential therapies have either moved into clinical trials or are nearing readiness for clinical trials.
What is the prognosis?
The prognosis for people with MD varies tremendously according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some forms of MD can lead to death in infancy while others cause only moderate disability.
Upcoming MDCC Meeting
April 27, 2016
Conference Room C/D
6001 Executive Blvd.
Bethesda, Maryland 20892
How is NIH supporting research on MD?
The NIH supports a broad program of research studies on MD which are carried out at Universities across the country as well as at the NIH Clinical Center in Bethesda, Maryland. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder.
The NIH funded Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers (MDCRC) program fosters the translation of new scientific findings and technological developments into novel treatments for the MDs. The MDCRCs are located in Universities and Research Institutes to promote basic, translational, and clinical research and provide important resources that can be used by the national muscle biology and neuromuscular research communities.
How do the Federal Agencies coordinate their programs in MD with patients and their representatives?
The Muscular Dystrophy Community Assistance, Research, and Education Amendments of 2001 ("MD-CARE Act"; P.L. 107-84) authorized the establishment of the Muscular Dystrophy Coordinating Committee (MDCC) to “…coordinate activities across the National Institutes and with other Federal health programs and activities relating to the various forms of muscular dystrophy.” The membership of the MDCC includes representatives from various Federal agencies and voluntary health organizations. In 2005, the MDCC collected and integrated the recommendations of muscular dystrophy researchers, physicians, patients, family members and other stakeholders into the Action Plan for the Muscular Dystrophies. This Action Plan contains specific research objectives and other goals for understanding the causes of the dystrophies and the burden on patients, families and society, accelerating diagnosis and treatment, and improving the lives of individuals living with muscular dystrophies. The Action Plan was revised and updated in 2015, and it continues to serve as a guide map for all MDCC member agencies and organizations and thus a central focus for coordination of research and other patient-centered activities in the muscular dystrophies.
For more information see http://www.ninds.nih.gov/disorders/md/md.htm