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Hereditary myoclonus-dystonia associated with epilepsy
E M J Foncke1, C Klein, J H T M Koelman
1Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
Neurology
|June 25, 2003
Abstract:
A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the epsilon-sarcoglycan gene (SGCE). In three of five gene carriers, epilepsy and/or EEG abnormalities were associated with the symptoms of myoclonus and dystonia. The genetic and clinical heterogeneity of M-D is extended. EEG changes and epilepsy should not be considered exclusion criteria for the clinical diagnosis of M-D.