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

被引:0
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作者
Klinman, Eva [1 ]
Gooch, Catherine [2 ]
Perlmutter, Joel S. [1 ]
Davis, Albert A. [1 ]
Maiti, Baijayanta [1 ]
机构
[1] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63130 USA
[2] Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO USA
关键词
D O I
10.1212/NXG.0000000000200128
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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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