Klinman Eva, Gooch Catherine, Perlmutter Joel S, Davis Albert A, Maiti Baijayanta
From the Department of Neurology (E.K., J.S.P., A.A.D., B.M.); and Division of Genetics and Genomic Medicine (C.G.), Department of Pediatrics, Washington University School of Medicine, St Louis, MO.
Neurol Genet. 2024 Mar 7;10(2):e200128. doi: 10.1212/NXG.0000000000200128. eCollection 2024 Apr.
Characterize the presentation, workup, and management of myoclonus-dystonia, a rare genetic condition, in a patient with atypical presenting symptoms and no family history of movement abnormalities.
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 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.
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 gene, resulting in a diagnosis of myoclonus-dystonia.
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.
在一名具有非典型症状且无运动异常家族史的患者中，描述罕见的遗传性疾病肌阵挛性肌张力障碍的临床表现、检查及治疗。
根据临床病史和体格检查确定一名患有肌阵挛和肌张力障碍的女性。进行了相关检查以确定其症状的病因，包括全外显子组测序。肌阵挛性肌张力障碍与MYC/DYT基因中100多种不同的突变相关，这些突变仅占肌阵挛性肌张力障碍患者总数的一半。因此，该病例需要进行深入的基因分析，而不是仅筛查一小部分特征明确的突变。
在一名年轻女性中发现了儿童期起病的肌阵挛，且肌张力障碍随年龄加重。她接受了抽动运动常见病因的筛查，随后进行全外显子组测序，发现该基因存在一个新发的新型变异，从而诊断为肌阵挛性肌张力障碍。
对于早年出现头部和上肢肌阵挛症状的患者，尤其是伴有肌张力障碍的患者，即使没有类似症状的家族史，也应考虑肌阵挛性肌张力障碍。由于不断有新的突变被发现，该疾病的诊断应采用测序方法。
