4.6 Review

The focal dystonias: Current views and challenges for future research

Journal

MOVEMENT DISORDERS
Volume 28, Issue 7, Pages 926-943

Publisher

WILEY
DOI: 10.1002/mds.25567

Keywords

focal dystonia; cervical dystonia; blepharospasm; spasmodic dysphonia; focal hand dystonia

Funding

  1. Dystonia Coalition from the Office of Rare Diseases Research in the National Center for Advancing Translational Sciences
  2. National Institute of Neurological Disorders and Stroke at the National Institutes of Health [U54 NS065701]

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The most common forms of dystonia are those that develop in adults and affect a relatively isolated region of the body. Although these adult-onset focal dystonias are most prevalent, knowledge of their etiologies and pathogenesis has lagged behind some of the rarer generalized dystonias, in which the identification of genetic defects has facilitated both basic and clinical research. This summary provides a brief review of the clinical manifestations of the adult-onset focal dystonias, focusing attention on less well understood clinical manifestations that need further study. It also provides a simple conceptual model for the similarities and differences among the different adult-onset focal dystonias as a rationale for lumping them together as a class of disorders while at the same time splitting them into subtypes. The concluding section outlines some of the most important research questions for the future. Answers to these questions are critical for advancing our understanding of this group of disorders and for developing novel therapeutics. (C) 2013 Movement Disorder Society

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