Non-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic Dyskinesia.

Background: Monoallelic pathogenic variants of often 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.

Objectives: We investigated non-motor symptoms and how they related to HrQoL in a genetically homogeneous group of -PKD patients. We paid special attention to perceived stigmatization and self-esteem.

Methods: We prospectively enrolled 21 consecutive PKD patients with a pathogenic variant of , 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.

Results: Patients 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 ( = 0.615, ) and the fear of being judged ( = 0.452, ), but not with the presence of paroxysmal episodes ( = 0.203, ).

Conclusions: Our findings have important implications for care givers concerning patient management and medical education about paroxysmal dyskinesia. -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.