Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability

Hereditary myoclonus dystonia is often due to changes in the gene. Dystonia (DYT)- 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. We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have a novel splice site variant. 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 variants.