Non‐Motor Symptoms and Quality of Life in Patients withPRRT2‐Related Paroxysmal Kinesigenic Dyskinesia

Abstract

ABSTRACTBackgroundMonoallelic pathogenic variants ofPRRT2often result in paroxysmal kinesigenic dyskinesia (PKD). Little is known about health‐related quality of life (HrQoL), non‐motor manifestations, self‐esteem, and stigma in patients with PKD.ObjectivesWe investigated non‐motor symptoms and how they related to HrQoL in a genetically homogeneous group ofPRRT2‐PKD patients. We paid special attention to perceived stigmatization and self‐esteem.MethodsWe prospectively enrolled 21 consecutive PKD patients with a pathogenic variant ofPRRT2, and 21 healthy controls matched for age and sex. They were evaluated with dedicated standardized tests for non‐motor symptoms, HrQoL, anxiety, depression, stigma, self‐esteem, sleep, fatigue, pain, and psychological well‐being.ResultsPatients reported an alteration of the physical aspects of HrQoL, regardless of the presence of residual paroxysmal episodes. Non‐motor manifestations were frequent, and were an important determinant of the alteration of HrQoL. In addition, patients perceived a higher level of stigmatization which positively correlated with a delay in diagnosis (ρ = 0.615,P = 0.003) and the fear of being judged (ρ = 0.452,P = 0.04), but not with the presence of paroxysmal episodes (ρ = 0.203,P = 0.379).ConclusionsOur findings have important implications for care givers concerning patient management and medical education about paroxysmal dyskinesia.PRRT2‐PKD patients should be screened for non‐motor disorders in routine care. A long history of misdiagnosis may play a role in the high level of perceived stigmatization. Improving knowledge about diagnostic clues suggestive of PKD is mandatory.