| Autor: |
David G. Coughlin, Tanya M. Bardakjian, Meredith Spindler, Andres Deik |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Tremor and Other Hyperkinetic Movements, Pp 1-4 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2160-8288 |
| DOI: |
10.7916/D8J11FRZ |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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