---
title: "Early-Onset Refractory DYT-TOR1A Status Dystonicus in a Toddler Treated with Bilateral GPi DBS"
id: "pubmed-42551000"
canonical_url: "https://medichelpline.com/clinical-feed/pubmed-42551000"
content_type: "clinical_feed_article"
specialty: "Neurology"
source_name: "PubMed / NCBI"
source_url: "https://pubmed.ncbi.nlm.nih.gov/42551000/"
doi: "10.1212/WNL.0000000000214878"
published_at: "2026-08-04T23:28:05.000Z"
evidence_level: "Journal Article"
license: "CC-BY-NC-4.0 / Informational Use"
---
# Early-Onset Refractory DYT-TOR1A Status Dystonicus in a Toddler Treated with Bilateral GPi DBS
## Provenance & Clinical Metadata
- **Canonical URL:** https://medichelpline.com/clinical-feed/pubmed-42551000
- **Specialty:** [Neurology](https://medichelpline.com/clinical-feed/neurology.md)
- **Primary Source:** PubMed / NCBI
- **Source URL:** [Original Journal Publication](https://pubmed.ncbi.nlm.nih.gov/42551000/)
- **DOI:** [10.1212/WNL.0000000000214878](https://doi.org/10.1212%2FWNL.0000000000214878)
- **Published At:** 2026-08-04T23:28:05.000Z
- **Evidence Rating:** Journal Article
## Executive GIST (TL;DR)
- Primary pediatric dystonia is defined by sustained or intermittent muscle contractions producing abnormal movements or postures and affects approximately **16.4 per 100,000 children** worldwide according to the report. - Genetic causes include pathogenic variants in genes such as **TOR1A**, which are associated with **DYT-TOR1A** dystonia. - The source article is a case report of a toddler with early-onset, rapidly progressive, and refractory **status dystonicus** due to a maternally inherited **TOR1A** pathogenic variant (c.907_909del; p.Glu303del). - The patient's dystonia proved refractory to multiple optimized medications and to continuous infusions, per the case description. - Ultimately, the care team proceeded with surgical therapy; **deep brain stimulation (DBS)** targeting the bilateral **globus pallidus interna (GPi)** provided symptomatic relief of the status dystonicus. - The patient’s atypical presentation and very young age made prognostication challenging. The report emphasizes that these factors required unique preoperative planning considerations prior to bilateral GPi DBS placement. - The case highlights broader clinical issues: difficulty in acute symptom management of refractory status dystonicus in young children, complexities of anticipatory guidance for families, and uncertainty in treatment expectations when using DBS in atypical/very young patients with genetic dystonia. - The article is published as a case report in Neurology (2026 Aug 25;107(4):e214878), PMID 42551000, DOI 10.1212/WNL.0000000000214878.
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Epub 2026 Aug 4. # Child Neurology: Early-Onset, Rapidly Progressive, and Refractory DYT- _TOR1A_ Status Dystonicus [Hadley W Ressler](https://pubmed.ncbi.nlm.nih.gov/?term=Ressler+HW&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Matthew Somerville](https://pubmed.ncbi.nlm.nih.gov/?term=Somerville+M&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Aubrey Hite](https://pubmed.ncbi.nlm.nih.gov/?term=Hite+A&cauthor_id=42551000)[ 2 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-2 "Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC."), [Leah Chapman](https://pubmed.ncbi.nlm.nih.gov/?term=Chapman+L&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Jared Kaplan](https://pubmed.ncbi.nlm.nih.gov/?term=Kaplan+J&cauthor_id=42551000)[ 3 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-3 "Neurosurgery, Wake Forest School of Medicine, Winston-Salem, NC; and."), [Audrey Hunt](https://pubmed.ncbi.nlm.nih.gov/?term=Hunt+A&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Jennifer Harmon](https://pubmed.ncbi.nlm.nih.gov/?term=Harmon+J&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Jessica Tate](https://pubmed.ncbi.nlm.nih.gov/?term=Tate+J&cauthor_id=42551000)[ 4 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-4 "Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Daniel E Couture](https://pubmed.ncbi.nlm.nih.gov/?term=Couture+DE&cauthor_id=42551000)[ 3 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-3 "Neurosurgery, Wake Forest School of Medicine, Winston-Salem, NC; and."), [Jaclyn M Martindale](https://pubmed.ncbi.nlm.nih.gov/?term=Martindale+JM&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#full-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC.") Affiliations Expand ### Affiliations * 1 Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC. * 2 Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC. * 3 Neurosurgery, Wake Forest School of Medicine, Winston-Salem, NC; and. * 4 Neurology, Wake Forest School of Medicine, Winston-Salem, NC. * PMID: **42551000** * DOI: [ 10.1212/WNL.0000000000214878 ](https://doi.org/10.1212/wnl.0000000000214878) Item in Clipboard Case Reports # Child Neurology: Early-Onset, Rapidly Progressive, and Refractory DYT- _TOR1A_ Status Dystonicus Hadley W Ressler et al. Neurology. 2026. Show details Display options Display options Format Abstract PubMed PMID Neurology Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurology%22%5Bjour%5D&sort=date&sort_order=desc) * [ Search in NLM Catalog ](https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Neurology%22%5BTitle+Abbreviation%5D) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42551000/) . 2026 Aug 25;107(4):e214878. doi: 10.1212/WNL.0000000000214878. Epub 2026 Aug 4. ### Authors [Hadley W Ressler](https://pubmed.ncbi.nlm.nih.gov/?term=Ressler+HW&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Matthew Somerville](https://pubmed.ncbi.nlm.nih.gov/?term=Somerville+M&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Aubrey Hite](https://pubmed.ncbi.nlm.nih.gov/?term=Hite+A&cauthor_id=42551000)[ 2 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-2 "Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC."), [Leah Chapman](https://pubmed.ncbi.nlm.nih.gov/?term=Chapman+L&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Jared Kaplan](https://pubmed.ncbi.nlm.nih.gov/?term=Kaplan+J&cauthor_id=42551000)[ 3 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-3 "Neurosurgery, Wake Forest School of Medicine, Winston-Salem, NC; and."), [Audrey Hunt](https://pubmed.ncbi.nlm.nih.gov/?term=Hunt+A&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Jennifer Harmon](https://pubmed.ncbi.nlm.nih.gov/?term=Harmon+J&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Jessica Tate](https://pubmed.ncbi.nlm.nih.gov/?term=Tate+J&cauthor_id=42551000)[ 4 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-4 "Neurology, Wake Forest School of Medicine, Winston-Salem, NC."), [Daniel E Couture](https://pubmed.ncbi.nlm.nih.gov/?term=Couture+DE&cauthor_id=42551000)[ 3 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-3 "Neurosurgery, Wake Forest School of Medicine, Winston-Salem, NC; and."), [Jaclyn M Martindale](https://pubmed.ncbi.nlm.nih.gov/?term=Martindale+JM&cauthor_id=42551000)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42551000/#short-view-affiliation-1 "Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC.") ### Affiliations * 1 Pediatric Neurology, Wake Forest School of Medicine, Winston-Salem, NC. * 2 Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC. * 3 Neurosurgery, Wake Forest School of Medicine, Winston-Salem, NC; and. * 4 Neurology, Wake Forest School of Medicine, Winston-Salem, NC. * PMID: **42551000** * DOI: [ 10.1212/WNL.0000000000214878 ](https://doi.org/10.1212/wnl.0000000000214878) Item in Clipboard Cite Display options Display options Format Abstract PubMed PMID ## 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_. 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