Clinical and genetic features of DYT1 and DYT5.
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.
Wang
Xiao-zhu
XZ
Peking University Center of Medical Genetics, Beijing 100083, China.
Zhong
Nanbert
N
D004422:Dystonia Musculorum Deformans / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans