open access

Vol 54, No 1 (2020)
Invited editorial
Submitted: 2020-03-02
Accepted: 2020-03-02
Get Citation

Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?

Klas Wictorin, Andreas Puschmann
DOI: 10.5603/PJNNS.a2020.0013
·
Pubmed: 32115676
·
Neurol Neurochir Pol 2020;54(1):3-5.

open access

Vol 54, No 1 (2020)
Invited editorial
Submitted: 2020-03-02
Accepted: 2020-03-02

Abstract

Introduction. Kaczyńska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits.

Clinical reflections. Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wide range of additional disease manifestations are known. A few patients with M-D have seizures.

Clinical implications. Altered neuronal excitability has been found in the pathogenesis of M-D. This may explain the partial effectiveness of antiepileptics and a lower seizure threshold, and could encourage trials of other membrane stabilisers. Careful clinical observations of seemingly well-known diseases remain important.

Abstract

Introduction. Kaczyńska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits.

Clinical reflections. Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wide range of additional disease manifestations are known. A few patients with M-D have seizures.

Clinical implications. Altered neuronal excitability has been found in the pathogenesis of M-D. This may explain the partial effectiveness of antiepileptics and a lower seizure threshold, and could encourage trials of other membrane stabilisers. Careful clinical observations of seemingly well-known diseases remain important.

Get Citation

Keywords

myoclonus-dystonia, DYT11, SGCE, phenotype

About this article
Title

Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 54, No 1 (2020)

Pages

3-5

DOI

10.5603/PJNNS.a2020.0013

Pubmed

32115676

Bibliographic record

Neurol Neurochir Pol 2020;54(1):3-5.

Keywords

myoclonus-dystonia
DYT11
SGCE
phenotype

Authors

Klas Wictorin
Andreas Puschmann

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

By "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk, Poland
tel.:+48 58 320 94 94, fax:+48 58 320 94 60, e-mail: viamedica@viamedica.pl