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Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.
- Source :
-
Neurology India . Sep/Oct2016, Vol. 64 Issue 5, p980-983. 4p. 1 Diagram, 1 Chart. - Publication Year :
- 2016
-
Abstract
- 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 patients carried a mutant variant in the SGCE-gene. A diagnosis of myoclonus-dystonia should be considered in cognitively normal patients with early-onset myoclonus (that may occur both at rest and/or action) with or without dystonia and with or without psychiatric-disturbances. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00283886
- Volume :
- 64
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- Neurology India
- Publication Type :
- Academic Journal
- Accession number :
- 118232426
- Full Text :
- https://doi.org/10.4103/0028-3886.190255