Tremor and other hyperkinetic movements (New York, N.Y.) · 2026
Childhood-Onset Myoclonus-Dystonia Due to KCTD17 Mutation: A Case Report and Review of Diagnostic Challenges.
СтатьяКлинический случайОбзорПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Lin Yun, Aoh Yu, Lu Ming-Kuei
Аннотация
BACKGROUND: Myoclonus-dystonia (M-D) is a rare hyperkinetic movement disorder most commonly associated with SGCE mutations, while KCTD17 represents a less frequent but distinct genetic cause.
CASE REPORT: A 23-year-old man with childhood-onset Tourette-like symptoms developed progressive dystonia, upper-limb-predominant dystonia, upper-limb-predominant myoclonus, and laryngeal involvement. Genetic testing identified a pathogenic KCTD17 mutation in the patient and his affected mother.
DISCUSSION: This case illustrates that Tourette-like manifestations may occur as an early presentation of KCTD17-related myoclonus-dystonia and underscores the importance of longitudinal reassessment and genetic evaluation.
HIGHLIGHTS: This case describes a genetically confirmed KCTD17-related myoclonus-dystonia presenting with early Tourette-like features. It highlights the diagnostic complexity arising from overlapping phenomenology, the importance of longitudinal reassessment, and the role of genetic testing in atypical, progressive, or treatment-refractory tic-like presentations.
CASE REPORT: A 23-year-old man with childhood-onset Tourette-like symptoms developed progressive dystonia, upper-limb-predominant dystonia, upper-limb-predominant myoclonus, and laryngeal involvement. Genetic testing identified a pathogenic KCTD17 mutation in the patient and his affected mother.
DISCUSSION: This case illustrates that Tourette-like manifestations may occur as an early presentation of KCTD17-related myoclonus-dystonia and underscores the importance of longitudinal reassessment and genetic evaluation.
HIGHLIGHTS: This case describes a genetically confirmed KCTD17-related myoclonus-dystonia presenting with early Tourette-like features. It highlights the diagnostic complexity arising from overlapping phenomenology, the importance of longitudinal reassessment, and the role of genetic testing in atypical, progressive, or treatment-refractory tic-like presentations.