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Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant Cover

Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant

Open Access
|Sep 2026

Figures & Tables

Video 1

Patient examination. Segment 1: The patient demonstrates oromandibular dystonia with spasmodic dysphonia and generalized dystonia with right-sided torticollis and left-sided laterocollis. No postural tremor can be detected. Segment 2: Finger-to-nose is normal and finger chase testing shows mild signs of ataxia. Segment 3: Rapid alternating movements reveal moderate dysdiadochokinesia, more prominent on the left side. Segment 4: Finger tapping shows no signs of bradykinesia. Segment 5: Heel-shin slide is slightly abnormal, again more prominent on the left side. Segment 6: Truncal dystonia with tilt to the right is evident. The patient walks with a broad-based gait and is unable to perform tandem gait.

DOI: https://doi.org/10.5334/tohm.1242 | Journal eISSN: 2160-8288
Language: English
Page range: 51 - 51
Submitted on: May 31, 2026
Accepted on: Aug 25, 2026
Published on: Sep 3, 2026
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services

© 2026 Maximilian Johannes Löw, Felix Bernsdorff, Christiane Weinrich, Saskia Biskup, Jerome Jüngling, Christoph van Riesen, Fabian Maass, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.