Authors
Eoghan Donlon, Jack Horan, Maeve Bradley, Federica Ruggieri, Marie Kelly, Elaine Reynolds, Conor Fearon, Tim Lynch, Erlick Pereira, Catherine Moran, Richard A Walsh
Published in
Movement disorders clinical practice. Sep 29, 2026. Epub Sep 29, 2026.
Abstract
Axial dystonia is a rare form of adult-onset focal dystonia. The majority of cases are idiopathic, however a similar phenotype can be seen in monogenic dystonias and tardive syndromes. Management of axial dystonia can be challenging, and most cases are typically refractory to pharmacotherapy and botulinum toxin injections.
We describe three cases of axial-predominant dystonia, two idiopathic and one with a monogenic etiology, each demonstrating an early and excellent response to GPi DBS.
We conducted a narrative review of the existing literature on axial dystonia, which remains limited to case reports and small series, with no large cohort studies to guide evidence-based management.
Consistent with limited previous reports and the three cases presented, our findings suggest that GPi DBS offers favorable outcomes in refractory AD regardless of underlying pathological substrate and should be considered early in disease course.
PMID:
42811728
Bibliographic data and abstract were imported from PubMed on 30 Sep 2026.
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