title: Clinical and genetic features of DYT1 and DYT5.
abstract: Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, repetitive, and patterned movements, or abnormal postures. According to genetic basis, dystonia is classified into 13 subtypes. We mainly discussed two subtypes, DYT1 and DYT5, in this review. Early-onset primary dystonia is caused by the mutation of DYT1 gene, which leads to TORSINA abnormal. GTP cyclohydrolase 1 (GTPCH1)-deficient DRD (DYT5) is caused by the mutations of GCH1 gene. By genetic testing, we can confirm clinical diagnosis of each subtype and develop prenatal diagnosis for it.
authors.affiliation: Peking University Center of Medical Genetics, Beijing 100083, China.
authors.forename: Xiao-zhu
authors.initials: XZ
authors.lastname: Wang
authors.forename: Nanbert
authors.initials: N
authors.lastname: Zhong
mesh_terms: D004422:Dystonia Musculorum Deformans / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans