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

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Abstract
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.
Keywords
QUALITY-OF-LIFE, PSYCHIATRIC-DISORDERS, CERVICAL DYSTONIA, FATIGUE, SCALE, SYMPTOMS, ANXIETY, SGCE, Myoclonus-dystonia, Dopa-responsive dystonia, Cervical dystonia, Non-motor symptoms, Quality of life

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MLA
Timmers, Elze R., et al. “Myoclonus-Dystonia : Distinctive Motor and Non-Motor Phenotype from Other Dystonia Syndromes.” PARKINSONISM & RELATED DISORDERS, vol. 69, 2019, pp. 85–90.
APA
Timmers, E. R., Smit, M., Kuiper, A., Bartels, A. L., van der Veen, S., van der Stouwe, A. M. M., … Tijssen, M. A. J. (2019). Myoclonus-dystonia : distinctive motor and non-motor phenotype from other dystonia syndromes. PARKINSONISM & RELATED DISORDERS, 69, 85–90.
Chicago author-date
Timmers, Elze R., Marenka Smit, Anouk Kuiper, Anna L. Bartels, Sterre van der Veen, A. M. Madelein van der Stouwe, Patrick Santens, Bruno Bergmans, and Marina A. J. Tijssen. 2019. “Myoclonus-Dystonia : Distinctive Motor and Non-Motor Phenotype from Other Dystonia Syndromes.” PARKINSONISM & RELATED DISORDERS 69: 85–90.
Chicago author-date (all authors)
Timmers, Elze R., Marenka Smit, Anouk Kuiper, Anna L. Bartels, Sterre van der Veen, A. M. Madelein van der Stouwe, Patrick Santens, Bruno Bergmans, and Marina A. J. Tijssen. 2019. “Myoclonus-Dystonia : Distinctive Motor and Non-Motor Phenotype from Other Dystonia Syndromes.” PARKINSONISM & RELATED DISORDERS 69: 85–90.
Vancouver
1.
Timmers ER, Smit M, Kuiper A, Bartels AL, van der Veen S, van der Stouwe AMM, et al. Myoclonus-dystonia : distinctive motor and non-motor phenotype from other dystonia syndromes. PARKINSONISM & RELATED DISORDERS. 2019;69:85–90.
IEEE
[1]
E. R. Timmers et al., “Myoclonus-dystonia : distinctive motor and non-motor phenotype from other dystonia syndromes,” PARKINSONISM & RELATED DISORDERS, vol. 69, pp. 85–90, 2019.
@article{8645721,
  abstract     = {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.},
  author       = {Timmers, Elze R. and Smit, Marenka and Kuiper, Anouk and Bartels, Anna L. and van der Veen, Sterre and van der Stouwe, A. M. Madelein and Santens, Patrick and Bergmans, Bruno and Tijssen, Marina A. J.},
  issn         = {1353-8020},
  journal      = {PARKINSONISM & RELATED DISORDERS},
  keywords     = {QUALITY-OF-LIFE,PSYCHIATRIC-DISORDERS,CERVICAL DYSTONIA,FATIGUE,SCALE,SYMPTOMS,ANXIETY,SGCE,Myoclonus-dystonia,Dopa-responsive dystonia,Cervical dystonia,Non-motor symptoms,Quality of life},
  language     = {eng},
  pages        = {85--90},
  title        = {Myoclonus-dystonia : distinctive motor and non-motor phenotype from other dystonia syndromes},
  url          = {http://dx.doi.org/10.1016/j.parkreldis.2019.10.015},
  volume       = {69},
  year         = {2019},
}

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