Peall, Kathryn J.  ORCID: https://orcid.org/0000-0003-4749-4944 and Roze, Emmanuel
2026.
Myoclonus dystonia.
International Review of Movement Disorders
10.1016/bs.irmvd.2026.05.004
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Abstract
Myoclonus Dystonia is a clinical-neurophysiological syndrome characterized combination of myoclonus, dystonia and psychiatric symptoms, each with distinctive characteristics that together form a recognizable syndrome. These characteristics have been established based on studies of patients with pathogenic variants in the epsilon-sarcoglycan gene (SGCE), which is the main culprit gene. The most typical characteristics are (i) onset in childhood, subcortical myoclonus predominating in the upper body that is often the main manifestation, (ii) action-specific dystonia during walking or writing, (iii) alcohol responsiveness of the motor symptoms, (iv) association with psychiatric symptoms, notably anxiety related disorders and obsessive-compulsive disorder and alcohol dependance. Although occasional, a spontaneous remission of dystonia before adolescence is a remarkable feature of this syndrome. A paternal dominant pattern of transmission could be a clue to the diagnosis, when the cause is a SGCE variant. The suspected pathophysiology involves a hyperexcitability and subsequent dysfunction within the basal ganglia-cerebellar-cortical network. Pharmacological treatments are often disappointing, but pallidal stimulation is remarkably safe and effective, and can be proposed in severe forms.
| Item Type: | Article |
|---|---|
| Date Type: | Published Online |
| Status: | In Press |
| Schools: | Schools > Medicine |
| Publisher: | Elsevier |
| ISSN: | 2666-7878 |
| Last Modified: | 10 Jul 2026 10:15 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/188036 |
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