Spinal muscular atrophy: Classification, diagnosis, management, pathogenesis, and future research directions

Felina V. Kostova, Virginia C. Williams, Jill Heemskerk, Susan Iannaccone, Christine DiDonato, Kathryn Swoboda, Bernard L. Maria

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)926-945
Number of pages20
JournalJournal of child neurology
Volume22
Issue number8
DOIs
StatePublished - Aug 1 2007

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Keywords

  • Clinical features
  • Future research directions
  • Pathogenesis
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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