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Spinal Muscular Atrophy: Classification, Diagnosis, Management, Pathogenesis, and Future Research Directions

Medical University of South Carolina, Charleston

Virginia C. Williams, BS

University of South Carolina School of Medicine, Columbia

Jill Heemskerk, PhD

National Institute of Neurological Disorders and Stroke, Bethesda, Maryland

Susan Iannaccone, MD, FAAN

University of Texas Southwestern Medical Center, Dallas

Christine DiDonato, PhD

Northwestern University, Chicago, Illinois

Kathryn Swoboda, MD

University of Utah, Salt Lake City

Bernard L. Maria, MD, MBA

Charles P. Darby Children's Research Institute, mariabl{at}musc.edu

Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder that affects the motor neurons responsible for movement of the proximal muscles of the trunk and body. To date, the disease can be classified into 3 main categories based on severity and age of onset. During the October 18th symposium held in Pittsburgh, Pennsylvania, researchers met to (1) describe current diagnostic strategies, (2) discuss recent thoughts on pathogenesis, (3) review current therapies and clinical trials, and (4) define future research directions. In her opening remarks, Dr Story Landis, director of the National Institute of Neurological Disorders and Stroke, emphasized the degree to which the Neurobiology of Disease in Children conference series has broadened awareness of the many rare diseases affecting children, not only through the advancement of research but also by educating practitioners about diagnostic strategies. Dr Landis also discussed the role this conference may play in fostering research that seeks to develop a single mechanism of therapy for spinal muscular atrophy. She also discussed the current funding situation at the National Institutes of Health and addressed the crucial function of volunteer research organizations that sponsor research in further improving management of this condition. This article summarizes the presentations and includes the verbatim edited transcript of question-and-answer sessions.

Key Words: spinal muscular atrophy • clinical features • pathogenesis • future research directions

Journal of Child Neurology, Vol. 22, No. 8, 926-945 (2007)
DOI: 10.1177/0883073807305662


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