AI Article Synopsis
- * This review focuses on two specific subtypes: DYT1, related to early-onset dystonia caused by mutations in the DYT1 gene, and DYT5, linked to GTP cyclohydrolase 1 deficiency due to GCH1 gene mutations.
- * Genetic testing plays a crucial role in diagnosing these dystonia subtypes and can be utilized for prenatal diagnosis as well.
Article 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.
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