Department of Neurology, 2094Mount Auburn Hospital, Cambridge, MA, USA.
Department of Neurology, 1862Boston Children's Hospital, Boston MA, USA.
J Child Neurol. 2021 Jul;36(8):610-617. doi: 10.1177/0883073820987755. Epub 2021 Jan 20.
Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuromuscular junction. Patients present with variable ocular, bulbar, respiratory, and extremity weakness that may respond to symptomatic therapies.
We identified 18 patients with congenital myasthenic syndrome from a pediatric neuromuscular center over a decade. Through a retrospective chart review, we characterize demographic profile, clinical features, genetic variants, treatment, and follow-up of these patients.
Patients had the following genetic subtypes: (6), (2), (2), (2), (1), (1), (1), (1), (1), and (1). The phenotype varied based on the genetic variants, though most patients have generalized fatigable weakness affecting ocular, bulbar, and extremity muscles. There was a significant delay in the diagnosis of this condition from the onset of symptoms. Although most patients improved with pyridostigmine, some subtypes showed worsening with pyridostigmine and others benefited from albuterol, ephedrine, or 3,4-diaminopyridine treatment.
Increasing recognition of this rare syndrome will lead to early diagnosis and prompt treatment. Prompt utilization of genetic testing will identify novel variants and the expanding phenotype of this condition.
先天性肌无力综合征是一组罕见的遗传性疾病，影响神经肌肉接头的传递。患者表现为不同程度的眼肌、延髓肌、呼吸肌和肢体无力，可能对症状性治疗有反应。
我们从一个儿科神经肌肉中心十多年来的患者中确定了 18 名先天性肌无力综合征患者。通过回顾性病历审查，我们描述了这些患者的人口统计学特征、临床特征、基因变异、治疗和随访情况。
患者的基因亚型如下：（6）、（2）、（2）、（2）、（1）、（1）、（1）、（1）、（1）、（1）。基于基因变异，表型有所不同，但大多数患者有全身性易疲劳性无力，影响眼肌、延髓肌和肢体肌肉。从症状出现到确诊，这种疾病存在明显的延迟。尽管大多数患者对吡啶斯的明治疗有效，但有些亚型在使用吡啶斯的明后恶化，而其他患者则受益于沙丁胺醇、麻黄碱或 3,4-二氨基吡啶治疗。
对这种罕见综合征的认识增加将导致早期诊断和及时治疗。及时进行基因检测将确定该疾病的新变异和扩展表型。
