Objective: Systematically study NMS in M-D in direct comparison to other types of dystonia and healthy controls.

Background: Myoclonus-dystonia (M-D) due to a SGCE mutation is an autosomal dominant inherited movement disorder. Apart from the motor symptoms, psychiatric disorders are highly prevalent in patients with M-D. Previous studies suggest that the type of psychiatric disorder differs between dystonia syndromes, probably related to disease specific pathology. Little is known about other non-motor symptoms (NMS) in M-D.

Method: Standardized questionnaires were used to assess the type and severity of psychiatric co-morbidity, sleep problems, fatigue and quality of life. Results of M-D patients with a SGCE mutation were compared to results of idiopathic cervical dystonia (CD) patients, dopa-responsive dystonia (DRD) patients with a GCH1 mutation, and healthy controls.

Results: We included 164 participants: 41 M-D, 51 CD, 19 DRD patients, 53 controls. Dystonia patients (M-D, CD and DRD) had an increased prevalence of psychiatric disorders compared to controls (56-74% vs. 29%). In M-D we found a significantly increased prevalence of obsessive-compulsive disorder and psychosis compared to CD and DRD. Dystonia patients had more sleep problems (49-68% vs. 36%) and fatigue (42-73% vs. 15%) than controls. Compared to other dystonia subtypes, M-D patients reported less excessive daytime sleepiness and fatigue.

Conclusion: Psychiatric comorbidity is frequent in all dystonia types, but OCD and psychosis are more common in M-D patients. The NMS appear to be dystonia subtype specific and suggest a shared pathophysiology. Further research is necessary to elucidate underlying pathways.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/non-motor-symptoms-in-myoclonus-dystonia-a-comparison-to-other-dystonia-subtypes/