Abstract：
Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes varies among patients from different ethnic groups. The aim of the present study was to characterize congenital myopathies with infancy onset among patients registered at our institution.
This retrospective study enrolled 56 patients based on the pathological and/or genetic diagnosis. Clinical, histopathological and genetic features of the patients were analysed with long-term follow-up.
Twenty-six out of 43 patients who received next-generation sequencing had genetic confirmation, and RYR1 variations (12/26) were the most prevalent. Eighteen novel variations were identified in 6 disease-causing genes, including RYR1, NEB, TTN, TNNT1, DNM2 and ACTA1. Nemaline myopathy (17/55) was the most common histopathology. The onset ages ranged from birth to 1 year. Thirty-one patients were followed for 3.83 ± 3.05 years (ranging from 3 months to 11 years). No patient died before 1 year. Two patients died at 5 years and 8 years respectively. The motor abilities were stable or improved in 23 patients and deteriorated in 6 patients. Ten (10/31) patients developed respiratory involvement, and 9 patients (9/31) had mildly abnormal electrocardiograms and/or echocardiograms.
The severity of congenital myopathies in the neonatal/infantile period may vary in patients from different ethnic groups. More concern should be given to cardiac monitoring in patients with congenital myopathies even in those with static courses.
This retrospective study enrolled 56 patients based on the pathological and/or genetic diagnosis. Clinical, histopathological and genetic features of the patients were analysed with long-term follow-up.
Twenty-six out of 43 patients who received next-generation sequencing had genetic confirmation, and RYR1 variations (12/26) were the most prevalent. Eighteen novel variations were identified in 6 disease-causing genes, including RYR1, NEB, TTN, TNNT1, DNM2 and ACTA1. Nemaline myopathy (17/55) was the most common histopathology. The onset ages ranged from birth to 1 year. Thirty-one patients were followed for 3.83 ± 3.05 years (ranging from 3 months to 11 years). No patient died before 1 year. Two patients died at 5 years and 8 years respectively. The motor abilities were stable or improved in 23 patients and deteriorated in 6 patients. Ten (10/31) patients developed respiratory involvement, and 9 patients (9/31) had mildly abnormal electrocardiograms and/or echocardiograms.
The severity of congenital myopathies in the neonatal/infantile period may vary in patients from different ethnic groups. More concern should be given to cardiac monitoring in patients with congenital myopathies even in those with static courses.
摘要：
先天性肌病是一组罕见的神经肌肉疾病，其特征是特定的组织病理学特征。病理和遗传原因之间的关系是复杂的，肌病致病基因的患病率在不同种族的患者中有所不同。本研究的目的是表征在我们机构注册的患者中婴儿期发病的先天性肌病。
这项回顾性研究根据病理和/或基因诊断纳入了56例患者。临床,通过长期随访分析了患者的组织病理学和遗传特征。
接受下一代测序的43例患者中有26例获得了基因确认，和RYR1变异（12/26）是最普遍的。在6个致病基因中发现了18个新的变异，包括RYR1,NEB,TTN,TNNT1、DNM2和ACTA1。神经肌病（17/55）是最常见的组织病理学。发病年龄从出生到1岁不等。31例患者随访3.83±3.05年（3个月至11年）。1年前无患者死亡。2例患者分别于5年和8年死亡。23例患者的运动能力稳定或改善，6例患者的运动能力恶化。10例（10/31）患者出现呼吸受累，9例(9/31)患者心电图和/或超声心动图轻度异常。
不同种族的患者在新生儿/婴儿时期先天性肌病的严重程度可能有所不同。即使是静态病程的先天性肌病患者，也应更加关注心脏监测。
这项回顾性研究根据病理和/或基因诊断纳入了56例患者。临床,通过长期随访分析了患者的组织病理学和遗传特征。
接受下一代测序的43例患者中有26例获得了基因确认，和RYR1变异（12/26）是最普遍的。在6个致病基因中发现了18个新的变异，包括RYR1,NEB,TTN,TNNT1、DNM2和ACTA1。神经肌病（17/55）是最常见的组织病理学。发病年龄从出生到1岁不等。31例患者随访3.83±3.05年（3个月至11年）。1年前无患者死亡。2例患者分别于5年和8年死亡。23例患者的运动能力稳定或改善，6例患者的运动能力恶化。10例（10/31）患者出现呼吸受累，9例(9/31)患者心电图和/或超声心动图轻度异常。
不同种族的患者在新生儿/婴儿时期先天性肌病的严重程度可能有所不同。即使是静态病程的先天性肌病患者，也应更加关注心脏监测。
