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Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability
oleh: David G. Coughlin, Tanya M. Bardakjian, Meredith Spindler, Andres Deik
Format: | Article |
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Diterbitkan: | Ubiquity Press 2018-03-01 |
Deskripsi
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 to have a novel SGCE splice site variant. Discussion: This novel variant is very likely pathogenic by in silico analysis and has not been previously reported. Additionally, her intellectual disability may constitute a novel phenotype for patients with SGCE variants.