Funding was provided through the NIH Muscular Dystrophy Consortium, which conducts research on muscular dystrophy. In addition to the NICHD, other institutes supporting the consortium are the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Neurological Disorders and Stroke. The NICHD provided additional funding for the study through its National Center for Medical Rehabilitation Research. Other funding was provided by the Foundation to Eradicate Duchenne, Inc., the Department of Defense CDMRP program, the Jain Foundation, Inc., the Crystal Ball Event of Hampton Roads and the Muscular Dystrophy Association, and the Ministry of Health, Labour, and Welfare of Japan.
Muscular dystrophies are a group of disorders causing muscle deterioration and weakness. Duchenne muscular dystrophy occurs almost exclusively in males, affecting 1 in every 3,500. Symptoms begin at about 3 years of age, with muscle weakness resulting in difficulty walking and talking. Most boys with the condition lose the ability to walk by age 12, and death usually occurs by the early 20s, from heart and respiratory failure.
The study was published on line in the Annals of Neurology and conducted by Toshifumi Yokota, Ph.D., and Eric Hoffman, Ph.D., of Children's National Medical Center, Washington, D.C., and Shin'ichi Takeda, M.D., Ph.D., of the National Center of Neurology and Psychiatry, Ogawa-Higashi, Kodaira, Tokyo, Japan, as well as other researchers at Children's, Carolinas Medical Center, Charlotte, N.C. and the National Center in Japan
Duchenne muscular dystrophy results from errors in the gene for dystrophin, a key component of muscles. Dr. Hoffman explained that individuals with Duchenne muscular dystrophy vary in the locations and kinds of the mutations occurring in the gene. Also, many boys with Duchenne muscular dystrophy have
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NIH/National Institute of Child Health and Human Development