KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation

Tremor and Other Hyperkinetic Movements

article

Bennett Lavenstein¹  Patrick McGurrin²  Sanaz Attaripour³  Felipe Vial³  Mark Hallett³ 

[1] Children’s National Health System;National Institute of Neurological Disorders and Stroke, National Institutes of Health;Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health;Department of Neurology, University of California;Facultad de Medicina Clínica Alemana Universidad del Desarrollo

关键词: Myoclonus;    Genetics;    Physiology;   

DOI  :  10.5334/tohm.668

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: Here we combine clinical, electrophysiological, and genetic findings to phenotype an unusual childhood movement disorder in a patient with a rare form of KCNN2 mutation.Case Report: A 10-year-old male presented with a clinical syndrome of tremor and myoclonus. Electrophysiology demonstrated muscle activity indicative of myoclonus dystonia, an observation that was not appreciated clinically. Genetic testing revealed an abnormality in the KCNN 2 gene, not present in the parents, known to cause dystonia, as the etiology.Discussion: The value of utilizing noninvasive, electrophysiological recording in pediatric movement disorders expands the precision of diagnosis, potentially informing treatment when correlated with clinical and genetic findings.

【 授权许可】

CC BY