The focal dystonias: Current views and challenges for future research

Authors

  • H. A. Jinnah MD, PhD,

    Corresponding author
    1. Department of Human Genetics, Emory University, Atlanta, Georgia, USA
    2. Department of Pediatrics, Emory University, Atlanta, Georgia, USA
    • Department of Neurology, Emory University, Atlanta, Georgia, USA
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  • Alfredo Berardelli MD,

    1. Department of Neurology and Psychiatry, “Sapienza” University of Rome and Scientific Institute for Cancer Research and Treatment (IRCCS) Neuromed Institute, Rome, Italy
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  • Cynthia Comella MD,

    1. Department of Neurological Sciences, Rush Medical College, Chicago, Illinois, USA
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  • Giovanni DeFazio MD, PhD,

    1. Department of Basic Medical Sciences, Neurosciences, and Sense Organs, “Aldo Moro” University of Bari, Bari, Italy
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  • Mahlon R. DeLong MD,

    1. Department of Neurology, Emory University, Atlanta, Georgia, USA
    2. Department of Psychiatry, Emory University, Atlanta, Georgia, USA
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  • Stewart Factor DO,

    1. Department of Neurology, Emory University, Atlanta, Georgia, USA
    2. Department of Pediatrics, Emory University, Atlanta, Georgia, USA
    3. Department of Psychiatry, Emory University, Atlanta, Georgia, USA
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  • Wendy R. Galpern MD,

    1. National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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  • Mark Hallett MD,

    1. Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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  • Christy L. Ludlow PhD,

    1. Department of Communication Sciences and Disorders, James Madison University, Harrisonburg, Virginia, USA
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  • Joel S. Perlmutter MD,

    1. Department of Neurology, Washington University, St. Louis, Missouri, USA
    2. Department of Radiology, Washington University, St. Louis, Missouri, USA
    3. Department of Neurobiology, Washington University, St. Louis, Missouri, USA
    4. Programs in Occupational Therapy and Physical Therapy, Washington University, St. Louis, Missouri, USA
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  • Ami R. Rosen MS,

    1. Department of Neurology, Emory University, Atlanta, Georgia, USA
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  • for the Dystonia Coalition Investigators


  • Funding agencies: This work was sponsored in part by a grant to the Dystonia Coalition from the Office of Rare Diseases Research in the National Center for Advancing Translational Sciences and the National Institute of Neurological Disorders and Stroke at the National Institutes of Health (U54 NS065701).

  • Relevant conflicts of interest/financial disclosures: Full financial disclosures and author roles may be found in the Acknowledgments section online.

Correspondence to: Dr. H. A. Jinnah, Emory University School of Medicine, Departments of Neurology, Human Genetics, and Pediatrics, 6300 Woodruff Memorial Building, Atlanta GA, 30322; hjinnah@emory.edu

ABSTRACT

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. © 2013 Movement Disorder Society

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