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Generalized Dystonia Due to a Pathogenic THAP1 Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation Cover

Generalized Dystonia Due to a Pathogenic THAP1 Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation

Open Access
|Aug 2023

Figures & Tables

Table 1

Initial and most recent deep brain stimulation parameters.

PARAMETERINITIAL SETTINGSMOST RECENT SETTINGS
LEFTRIGHTLEFTRIGHT
Contacts1+ 2 –10+ 11 –1+ 2 –10+ 11 –
Amplitude2.5 V2.5 V3.1 V2.9 V
Pulse width60 µs60 µs60 µs60 µs
Frequency130 Hz130 Hz130 Hz130 Hz
Video 1

Taken prior to DBS implantation at age 31. The video shows a marked left torticollis and right laterocollis, with elevation of the right shoulder and evidence of a sensory trick. There is dystonic posturing of the right upper limb and evidence of task-specific dystonia on writing.

Video 2

In DBS ‘ON’ stage at 40 (8.5 years post DBS implantation). There is moderate left torticollis with restricted range of movement to right, and anterior sagittal shift.

Video 3

In DBS “OFF” state. Severe left torticollis with inability to turn the head past the midline to the right, with additional severe antecaput and truncal involvement. Significant tremulous dystonic posturing of both upper limbs is evident.

DOI: https://doi.org/10.5334/tohm.774 | Journal eISSN: 2160-8288
Language: English
Submitted on: Apr 19, 2023
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Accepted on: Aug 11, 2023
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Published on: Aug 22, 2023
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2023 Shakya Bhattacharjee, Monty A. Silverdale, Michael Bonello, Julian Evans, Christopher Kobylecki, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.