ArticleJournal of movement disorders2026
Clinical, Radiological, and Therapeutic Profiles of Patients With DYT-TOR1A: A Single-Center Study in India and Literature Review of the Asian MDSGene Cohort.
Article in Journal of movement disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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10 authors.
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Abstract
objectiveThis study aimed to characterize the phenotypic spectrum and therapeutic outcomes of patients of Indian and Asian origin with DYT-TOR1A.
methodsA retrospective chart review of patients with genetically confirmed DYT-TOR1A (c.907_909delGAG; p.Glu303del variant) from a tertiary care center in India.
resultsTwelve patients (11 males, 91.7%) with a median age at disease onset of 10.5 years (range, 8-17 years) and a disease duration of 5 years (range, 2 months-31 years) were included. All patients had an isolated and progressive dystonia phenotype. Eight patients (66.7%) had a disease onset in childhood, and limb involvement at disease onset was noted in 10 (83.3%) patients. Five patients (41.7%) underwent bilateral globus pallidus internus deep brain stimulation within a median duration of 4 years (range, 2.5-6.5 years) from onset, with significant improvement.
conclusionThis Indian patient cohort showed a strong male predominance and consistent early involvement of the upper limbs. A shorter disease course accompanied by greater severity highlights the need for early recognition and potential surgical intervention.
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