Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features
Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features
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DOI：
10.1177/0883073820987755
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发表时间：
2021-01-20
影响因子：
1.9
通讯作者：
Ghosh, Partha S.
中科院分区：
文献类型：
--
作者：
Prior, Devin E.;Ghosh, Partha S.
背景：先天性肌无力综合征是一组罕见的影响神经肌肉接头传递的遗传性疾病。患者表现出不同的眼部、眼球、呼吸和四肢无力，可能对对症治疗有反应。方法：我们在十多年的儿科神经肌肉中心确定了18例先天性肌无力综合征患者。通过回顾性病历分析，我们描述了这些患者的人口统计学特征、临床特征、遗传变异、治疗和随访。结果：患者具有以下遗传亚型：CHRNE（6）、CHAT（2）、MUSK（2）、DOK 7（2）、COLQ（1）、RAPSN（1）、PREPL（1）、GFPT 1（1）、CHRBB 1（1）和CHRNA 1（1）。表型根据遗传变异而变化，尽管大多数患者具有影响眼部、延髓和四肢肌肉的全身性疲劳无力。有一个显着的延迟诊断这种情况从症状发作。虽然大多数患者改善与吡啶斯的明，一些亚型恶化与吡啶斯的明和其他受益于沙丁胺醇，麻黄碱，或3，4-diaminopyridine treatment.Conclusion：增加认识这种罕见的综合征将导致早期诊断和及时治疗。及时利用基因检测将确定新的变异和扩大表型的这种情况。
Background: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.Methods: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.Results:Patients had the following genetic subtypes: CHRNE (6), CHAT (2), MUSK (2), DOK7 (2), COLQ (1), RAPSN (1), PREPL (1), GFPT1 (1), CHRBB1 (1), and CHRNA1 (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.Conclusion: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.