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

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.

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.

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.