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

Elze R Timmers1, Marenka Smit1, Anouk Kuiper1

  • 1Department of Neurology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, the Netherlands.

Parkinsonism & Related Disorders
|November 10, 2019
PubMed
Abstract

Insights

Myoclonus-dystonia (M-D) patients exhibit higher rates of psychiatric disorders, particularly obsessive-compulsive disorder and psychosis, compared to other dystonia types. This study systematically investigated non-motor symptoms in M-D.

Area of Science:

  • Neurology
  • Genetics
  • Psychiatry

Background:

  • Myoclonus-dystonia (M-D) is an inherited movement disorder linked to SGCE gene variants.
  • Psychiatric disorders are common in M-D, but their specific types and other non-motor symptoms (NMS) remain understudied.
  • Previous research suggests psychiatric differences among dystonia syndromes, potentially due to distinct pathologies.

Purpose of the Study:

  • To systematically investigate non-motor symptoms (NMS) in Myoclonus-dystonia (M-D).
  • To compare NMS, including psychiatric comorbidities, sleep problems, and fatigue, in M-D patients against other dystonia subtypes and healthy controls.
  • To determine if specific psychiatric disorders are more prevalent in M-D.

Main Methods:

  • Utilized standardized questionnaires to assess psychiatric comorbidities, sleep issues, fatigue, and quality of life.
  • Compared data from 41 M-D patients (SGCE variant) with 51 idiopathic cervical dystonia (CD) patients, 19 dopa-responsive dystonia (DRD) patients (GCH1 variant), and 53 healthy controls.
  • Analyzed the type and severity of reported symptoms across all participant groups.

Main Results:

  • Dystonia patients (M-D, CD, DRD) showed higher psychiatric disorder prevalence (56-74%) than controls (29%).
  • M-D patients had a significantly higher prevalence of obsessive-compulsive disorder (OCD) and psychosis compared to CD and DRD patients.
  • All dystonia groups reported more sleep problems (49-68%) and fatigue (42-73%) than controls, though M-D patients reported less excessive daytime sleepiness and fatigue than other dystonia subtypes.

Conclusions:

  • Psychiatric comorbidity is prevalent across dystonia types, with OCD and psychosis being notably more frequent in M-D.
  • The findings highlight distinct non-motor symptom profiles in M-D.
  • Further research is needed to understand the underlying biological pathways driving these differences.
Keywords:
Cervical dystoniaDopa-responsive dystoniaMyoclonus-dystoniaNon-motor symptomsQuality of life

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