Response to deep brain stimulation in pediatric TOR1A-associated torsion dystonia

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.