Hereditary myoclonus-dystonia associated with epilepsy.
case_series · Level IV
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- Record sourced from PubMed, PMID 12821748.
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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.
Medical subject headings
- Cytoskeletal Proteins
- Dystonic Disorders
- Epilepsies, Myoclonic
- Frameshift Mutation
- Membrane Glycoproteins