Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case Report.
Neurol Genet
; 10(2): e200128, 2024 Apr.
Article
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| MEDLINE
| ID: mdl-38486676
ABSTRACT
Objectives:
Characterize the presentation, workup, and management of SGCE myoclonus-dystonia, a rare genetic condition, in a patient with atypical presenting symptoms and no family history of movement abnormalities.Methods:
A woman with myoclonus and dystonia was identified based on clinical history and physical examination. Workup was conducted to determine the cause of her symptoms, including whole-exome sequencing. Myoclonus-dystonia is associated with more than 100 distinct mutations in MYC/DYT-SGCE that account for only half of the total myoclonus-dystonia patients. As such, this case required intensive genetic analyses rather than screening only for a small subset of well-characterized mutations.Results:
Childhood onset myoclonus and worsening dystonia with age were identified in a young woman. She underwent screening for common causes of twitching movements, followed by whole-exome sequencing which identified a de novo novel variant in the SGCE gene, resulting in a diagnosis of SGCE myoclonus-dystonia.Discussion:
Myoclonus-dystonia should be considered in patients with symptoms of head and upper extremity myoclonus early in life, especially with co-occurring dystonia, even in the absence of a family history of similar symptoms. Diagnosis of this condition should take place using sequencing, as new mutations continue to be discovered.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
Neurol Genet
Año:
2024
Tipo del documento:
Article