Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment : Current Opinion in Neurology

Secondary Logo

Journal Logo

MOVEMENT DISORDERS: Edited by Marie Vidailhet

Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment

Roze, Emmanuela,b; Lang, Anthony E.c; Vidailhet, Mariea,b

Author Information
Current Opinion in Neurology 31(4):p 484-490, August 2018. | DOI: 10.1097/WCO.0000000000000577


Purpose of review 

The present study will highlight recent advances in the field of myoclonus-dystonia with a focus on clinical aspects, pathogenesis, and treatment. We will also discuss genetics, classification issues, and diagnostic criteria.

Recent findings 

Myoclonus-dystonia is a clinical syndrome corresponding to the phenotype linked to SGCE, the main causative gene. Childhood-onset myoclonus that predominates over dystonia with prominent upper body involvement, an absence of truncal dystonia, associated anxiety or compulsivity, and a positive family history are helpful diagnostic clues. Recent studies demonstrated that zonisamide is an interesting therapeutic option in myoclonus-dystonia, and that bilateral pallidal stimulation has major and lasting therapeutic effects. Accumulating evidence suggests that an alteration in cerebello-thalamic pathway function may play a prominent role and that this is possibly related to a GABAergic deficit reflecting Purkinje cell dysfunction. Impaired striatal plasticity and disturbed serotonin homeostasis may also be implicated. Newly available cellular and rodent models may further assist in investigating the pathogenesis of this disorder.


Comprehensive analysis of the phenotype and precise classification are important in patients with myoclonus and dystonia to identify homogeneous groups of patients. This is critical to guide tailored therapeutic strategies and promote effective research.

Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

You can read the full text of this article if you:

Access through Ovid