Authors
Hadley W Ressler, Matthew Somerville, Aubrey Hite, Leah Chapman, Jared Kaplan, Audrey Hunt, Jennifer Harmon, Jessica Tate, Daniel E Couture, Jaclyn M Martindale
Published in
Neurology. Volume 107. Issue 4. Pages e214878. Aug 25, 2026. Epub Aug 04, 2026.
Abstract
Primary (genetic) pediatric dystonia, characterized by sustained or intermittent muscle contractions that cause abnormal movements or postures, affects 16.4 in 100,000 children worldwide. It can be caused by various factors, including pathogenic variants in genes such as TOR1A, associated with DYT-TOR1A dystonia. In this report, we present the case of a toddler with DYT-TOR1A treated with deep brain stimulation (DBS) because of his early-onset, rapidly progressive, and refractory status dystonicus. Genetic testing confirmed a maternally inherited pathogenic variant in TOR1A, c.907_909del (p.Glu303del). His dystonia was refractory to multiple optimized medications and continuous infusions. Ultimately, DBS surgery to the bilateral globus pallidus interni (GPi) provided symptomatic relief of his status dystonicus. His atypical presentation and young age made it difficult to predict expected outcomes. Thus, he required unique planning considerations before placement of bilateral GPi DBS. This case highlights challenges in symptom management, anticipatory guidance, and treatment expectations in the complex and refractory condition of status dystonicus for a young patient with DYT-TOR1A.
PMID:
42551000
Bibliographic data and abstract were imported from PubMed on 05 Aug 2026.
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