Article
Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2018
Coughlin David G, Bardakjian Tanya M, Spindler Meredith, Deik Andres
Abstract excerpt
Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common. Case Report: We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found...
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