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ISSN 2007-6452 (Print)

2025, Number 2

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Investigación en Discapacidad 2025; 11 (2)

TOR1A generalized dystonia: narrative review of a pathology with phenotypic heterogeneity

Rodríguez-Gutiérrez A, Sánchez-Hernández BE, Pérez-Aldana BE, Ortega-Vázquez A, Monroy-Jaramillo N, Ramírez-García MÁ, López-López M

Language: Spanish
References: 38
Page: 68-77
PDF size: 356.05 Kb.


ABSTRACT

Introduction: dystonia is a hyperkinetic movement disorder characterized by involuntary, sustained or intermittent muscle contractions, leading to repetitive movements and/or abnormal postures which causes the affected people to be unable to carry out their daily activities. 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: to describe the phenotypic heterogeneity of generalized DYT, caused by the c.907_909delGAG variant, in subjects from different populations over the past five years. Material and methods: a bibliographic search was conducted in the PubMed and UW Libraries databases, following the PRISMA reporting guidelines. Results: a total of 131 articles were obtained (91 in PubMed and 40 in UW Libraries). After applying the selection filters, 124 publications were excluded, and seven 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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