Clinical neurogenetics: dystonia from phenotype to genotype

Jeffrey L Waugh; Nutan Sharma

doi:10.1016/j.ncl.2013.04.002

Clinical neurogenetics: dystonia from phenotype to genotype

Neurol Clin. 2013 Nov;31(4):969-86. doi: 10.1016/j.ncl.2013.04.002.

Authors

Jeffrey L Waugh¹, Nutan Sharma

Affiliation

¹ Department of Neurology, Massachusetts General Hospital, Harvard Medical School, MA, USA; Department of Neurology, Boston Children's Hospital, MA, USA. Electronic address: jeff.waugh@childrens.harvard.edu.

PMID: 24176419
DOI: 10.1016/j.ncl.2013.04.002

Abstract

Dystonia can arise from genetic syndromes or can be secondary to nongenetic injuries; both causes can produce pure dystonia, dystonia plus other movement disorders, or paroxysmal mixed movement disorders. Genetic causes of dystonia are inherited through dominant, recessive, X-linked, and mitochondrial mechanisms, may show anticipation, are variably penetrant, and may be limited to small ethnic populations or single families. In this article, the genetic causes of dystonia, an algorithm for their diagnosis and management, information on common medications and surgical treatments, and resources for affected families and those interested in advancing research are presented.

Keywords: Dystonia; Myoclonus; Parkinsonism; Paroxysmal dyskinesia.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Dystonia / diagnosis
Dystonia / genetics*
Dystonia / pathology
Genotype
Humans
Magnetic Resonance Imaging
Phenotype

Grants and funding

P50 NS037409/NS/NINDS NIH HHS/United States