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

Abstract excerpt

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...

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