Author(s): Rolfs, Prof. Arndt, MD, Tedroff, Kristina, MD PhD, Norling, Andreas
This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia. Read more!
Myoclonus dystonia is an autosomal dominant dystonia-plus syndrome, characterized by symptom variability within families. Most often is the myoclonus the most debilitating symptom, and many patients report myoclonus reduction after alcohol intake. In several families, mutations in the SGCE gene have been identified. This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia.
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