Myoclonus-dystonia: Distinctive motor and non-motor phenotype from other dystonia syndromes

Elze R Timmers, Marenka Smit, Anouk Kuiper, Anna L Bartels, Sterre van der Veen, A M Madelein van der Stouwe, Patrick Santens, Bruno Bergmans, Marina A J Tijssen

OnderzoeksoutputAcademicpeer review

17 Citaten (Scopus)
127 Downloads (Pure)

Samenvatting

Background: myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders are highly prevalent in patients with MD. Previous studies suggest, but never tested directly, 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. Here, we systematically study NMS in M-D in direct comparison to other types of dystonia and healthy controls.

Methods: Standardized questionnaires were used to assess type and severity of psychiatric co-morbidity, sleep problems, fatigue and quality of life. Results of M-D patients with a pathogenic variant of SGCE were compared to results of idiopathic cervical dystonia (CD) patients, dopa-responsive dystonia (DRD) patients with a pathogenic variant of GCH1 and 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 (OCD) and psychosis compared to CD and DRD. All 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. Further research is necessary to elucidate underlying pathways.

Originele taal-2English
Pagina's (van-tot)85-90
Aantal pagina's6
TijdschriftParkinsonism & Related Disorders
Volume69
Vroegere onlinedatum2019
DOI's
StatusPublished - dec-2019

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