The focal dystonias: Current views and challenges for future research

H. A. Jinnah, Alfredo Berardelli, Cynthia Comella, Giovanni Defazio, Mahlon R. Delong, Stewart Factor, Wendy R. Galpern, Mark Hallett, Christy L. Ludlow, Joel S. Perlmutter, Ami R. Rosen

Research output: Contribution to journalReview article

112 Scopus citations

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.

Original languageEnglish
Pages (from-to)926-943
Number of pages18
JournalMovement Disorders
Volume28
Issue number7
DOIs
StatePublished - Jun 15 2013

Keywords

  • Blepharospasm
  • Cervical dystonia
  • Focal dystonia
  • Focal hand dystonia
  • Spasmodic dysphonia

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    Jinnah, H. A., Berardelli, A., Comella, C., Defazio, G., Delong, M. R., Factor, S., Galpern, W. R., Hallett, M., Ludlow, C. L., Perlmutter, J. S., & Rosen, A. R. (2013). The focal dystonias: Current views and challenges for future research. Movement Disorders, 28(7), 926-943. https://doi.org/10.1002/mds.25567