Paroxysmal movement disorders: Recent advances and proposal of a classification system

Abstract

The increasing recognition of the phenotypic and genotypic heterogeneity that exists amongst the paroxysmal movement disorders (PMDs) is challenging the way these disorders have been traditionally classified. The present review aims to summarize how recent genetic advances have influenced our understanding of the nosology, pathophysiology and treatment strategies of paroxysmal movement disorders. We propose classifying PMDs using a system that would combine both phenotype and genotype information to allow these disorders to be better categorized and studied. In the era of next generation sequencing, the use of a standardized algorithm and employment of selective genetic screening will lead to greater diagnostic certainty and targeted therapeutics for the patients.

Keywords: Episodic ataxia (EA); Genetics; Paroxysmal exercise induced dyskinesia (PED); Paroxysmal kinesigenic dyskinesia (PKD); Paroxysmal non-kinesigenic dyskinesia(PNKD).