DOI: 10.4103/aomd.aomd_95_25 ISSN: 2590-3446
Response to deep brain stimulation in pediatric TOR1A-associated torsion dystonia
Sireesha Yareeda, Sruthi Kola, Vamsi Krishna Yerramneni, Rukmini M. Kandadai, Rajesh Alugolu, Vasundhara S. Rangan, Rupam Borgohain Abstract
TOR1A-related dystonia (DYT1 dystonia), is an autosomal dominant primary genetic dystonia caused by mutations in the
TOR1A
gene. It typically presents in childhood with limb-onset dystonia or cervical dystonia and often progresses to generalized dystonia. We report two cases of generalized dystonia with confirmed pathogenic variants of
TOR1A (p.Glu303del).
After thorough evaluation and parental counseling, both patients underwent deep brain stimulation (DBS) of bilateral globus pallidus internus and showed marked clinical improvement. These cases underscore the importance of early genetic diagnosis and the therapeutic efficacy of DBS in managing DYT1 dystonia.