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Childhood-Onset Myoclonus-Dystonia Due to KCTD17 Mutation: A Case Report and Review of Diagnostic Challenges Cover

Childhood-Onset Myoclonus-Dystonia Due to KCTD17 Mutation: A Case Report and Review of Diagnostic Challenges

By: ,   and    
Open Access
|Apr 2026

Figures & Tables

Video 1

The patient’s mother demonstrates intermittent upper-limb jerks of which she is unaware. Mild bradykinesia and dysdiadochokinesia are more prominent in the left upper limb. She is currently receiving antipsychotic medication for the management of schizophrenia.

Video 2

Generalized dystonia with intermittent vocalizations and upper limb–predominant myoclonic jerks before treatment, followed by notable improvement after administration of amantadine and clonazepam.

DOI: https://doi.org/10.5334/tohm.1170 | Journal eISSN: 2160-8288
Language: English
Page range: 24 - 24
Submitted on: Jan 20, 2026
Accepted on: Mar 31, 2026
Published on: Apr 9, 2026
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2026 Yun Lin, Yu Aoh, Ming-Kuei Lu, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.