Related Experiment Video
Updated: Dec 27, 2025
Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
Klas Wictorin1, Andreas Puschmann2
1Lund University, Department of Clinical Sciences Helsingborg, Sweden. Andreas.Puschmann@med.lu.se.
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.
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