title: Genetics of dystonia.
abstract: Dystonia is characterized by muscle contractions leading to abnormal postures with involuntary twisting and repetitive movements. Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20). Currently, 19 loci including 10 genes have been identified for inherited dystonias. In this review, the phenotypes associated with these loci and the responsible genes will be discussed.
authors.affiliation: Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York 10029, USA.
authors.forename: Tania
authors.initials: T
authors.lastname: Fuchs
authors.forename: Laurie J
authors.initials: LJ
authors.lastname: Ozelius
mesh_terms: D002819:Chorea / Q000235:genetics; D004421:Dystonia / Q000150:complications / Q000235:genetics*; D020821:Dystonic Disorders / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009207:Myoclonus / Q000150:complications / Q000235:genetics; D020734:Parkinsonian Disorders / Q000150:complications / Q000235:genetics; D010641:Phenotype