Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case Report.

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 dysto

SUBMITTER: Klinman E 

PROVIDER: S-EPMC10932734 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature