title: Clinical neurogenetics: dystonia from phenotype to genotype.
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.
authors.affiliation: 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.
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Waugh
authors.forename: Nutan
authors.initials: N
authors.lastname: Sharma
mesh_terms: D004421:Dystonia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D010641:Phenotype
keywords: Dystonia; Myoclonus; Parkinsonism; Paroxysmal dyskinesia