No abstract

Background: Nonmotor symptoms (NMS) are highly prevalent in cervical dystonia (CD). In general, fatigue and sleep are important NMS that determine a decreased health-related quality of life (HR-QoL), but their influence in CD is unknown. The authors systematically investigated fatigue, excessive daytime sleepiness (EDS), and sleep quality in patients with CD and controls and assessed the influence of psychiatric comorbidity, pain, and dystonia motor severity. They also examined the predictors of HR-QoL. Methods: The study included 44 patients with CD and 43 matched controls. Fatigue, EDS, and sleep quality were assessed with quantitative questionnaires and corrected for depression and anxiety using analysis of covariance. The Toronto Western Spasmodic Torticollis Rating Scale and the Clinical Global Impression Scalejerks/tremor subscale were used to score motor severity and to assess whether motor characteristics could explain an additional part of the variation in fatigue and sleep-related measures. HR-QoL was determined with the RAND-36 item Health Survey, and predictors of HR-QoL were assessed using multiple regression. Results: Fatigue scores were increased independently from psychiatric comorbidity (4.0 vs. 2.7; P < 0.01), whereas EDS (7.3 vs. 7.4; P = 0.95) and sleep quality (6.5 vs. 6.1; P = 0.73) were highly associated with depression and anxiety. In patients with CD, motor severity did not explain the variations in fatigue (change in the correlation coefficient [DR 2 ] = 0.06; P = 0.15), EDS (DR 2 = 0.00; P = 0.96), or sleep quality (DR 2 = 0.04; P = 0.38) scores. Fatigue, EDS, psychiatric comorbidity, and pain predicted a decreased QoL. Conclusion: Independent from psychiatric comorbidity and motor severity, fatigue appeared to be a primary NMS. Sleep-related measures were highly associated with psychiatric comorbidity, but not with motor severity. Only NMS predicted HR-QoL, which emphasizes the importance of attention to NMS in patients with CD.

Paroxysmal exercise-induced dyskinesia (PED) is characterized by recurrent episodes of involuntary movement disorders usually precipitated by sustained walking or running. Recently, mutations in the gene encoding for glucose transporter type 1 (GLUT-1) were described in a number of families with autosomal dominant PED. However, the underlying etiology of PED is quite heterogeneous. We describe a large series of patients presenting with PED.