Clinical, Radiological, and Therapeutic Profiles of Patients With DYT-TOR1A: A Single-Center Study in India and Literature Review of the Asian MDSGene Cohort

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OBJECTIVE: This study aimed to characterize the phenotypic spectrum and therapeutic outcomes of patients of Indian and Asian origin with DYT-TOR1A. METHODS: A retrospective chart review of patients with genetically confirmed DYT-TOR1A (c.907_909delGAG; p.Glu303del variant) from a tertiary care center in India. RESULTS: Twelve 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. CONCLUSION: This 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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