Recent updates in the clinical evaluation and management of pediatric paroxysmal movement disorders

PURPOSE OF REVIEW: Paroxysmal movement disorders are a clinically and genetically diverse group of rare childhood-onset movement disorders that are challenging to diagnose and treat. Thus, this review highlights recent advancements in the epidemiology, diagnosis, classification, and management of pediatric paroxysmal movement disorders. RECENT FINDINGS: The classification of paroxysmal movement disorders has evolved from clinical descriptions to an etiology-descriptive, genotype-phenotype approach. While next-generation sequencing has increased diagnostic yield, 17.5-65% of patients remain without a genetic diagnosis. Recent publications underscore the co-occurrence of PxMDs within developmental and epileptic encephalopathies and epilepsy-dyskinesia syndromes. Novel causative genes (e.g., TMEM151A, KCNJ10, FGF13A) and new phenotypic associations (RHOBTB2) have been identified. Therapeutic strategies are moving to genotype-directed treatments. SUMMARY: Despite recent advances in genetics, detailed clinical history, video analysis, and neurological examination are still key to diagnosing paroxysmal movement disorders and guiding genetic testing. Though next-generation sequencing has provided insights with new genes and disease mechanisms, there is still much to be understood.