TOR1A generalized dystonia: a pathology with phenotypic heterogeneity
Keywords:
DYT-TOR1A, TOR1A, clinical heterogeneityAbstract
Introduction: Dystonia is a hyperkinetic movement disorder characterized by involuntary, sustained or intermittent muscle contractions, leading to repetitive movements and/or abnormal postures. Among genetic dystonias, the one associated with pathogenic variants of the TOR1A gene (DYT-TOR1A) is the most common, with an autosomal dominant inheritance model, and is related to the c.907_909delGAG variant. Its global prevalence is estimated to range from 7.6 to 16 cases per 100,000 individuals. Objective: The objective of this review was to describe the phenotypic heterogeneity of subjects with DYT-TOR1A from different populations over the past 5 years. Methodology: A bibliographic search was conducted in the PubMed and UW Libraries databases, following the PRISMA methodology. Inclusion and exclusion criteria were applied to select the most relevant articles. Results: A total of 131 articles were obtained (91 in PubMed and 46 in UW Libraries). After applying the selection filters, 124 publications were excluded, and 7 articles containing data from 36 subjects from eight countries were included in this systematic review: South Africa, Germany, Spain, Taiwan, South Korea, Japan, India, and Italy. Of these, 21 individuals showed clinical manifestations of dystonia (58.33%), and 15 family members were asymptomatic carriers (41.6%). Conclusions: DYT-TOR1A presents a challenge in clinical practice due to its heterogeneity in clinical manifestations. Future research is needed to elucidate the underlying mechanisms of the phenotypic variability, which is crucial for improving diagnosis and therapeutic options.
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