Article
Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.
Neurology India - 1 Jan 2000
Jain Puneet, Sharma Suvasini, van Ruissen Fred, Aneja Satinder
Abstract excerpt
Hereditary myoclonus-dystonia (DYT 11) is caused by the epsilon-sarcoglycan (SGCE) mutation. The clinical details and investigations of cases diagnosed with myoclonus-dystonia were reviewed. We describe 5 patients (3 families) with myoclonus-dystonia diagnosed at our center. Majority of the patients had the classical phenotype with few atypical features (adult-onset disease and onset in lower limbs). Four...
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