Nemaline myopathy: A clinical study of 143 cases
Nemaline myopathy: A clinical study of 143 cases
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DOI：
10.1002/ana.1080
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发表时间：
2001-09-01
影响因子：
11.2
通讯作者：
North, KN
中科院分区：
文献类型：
--
作者：
Ryan, MM;Schnell, C;North, KN
我们报告了143例澳大利亚和北美的原发性线虫性肌病。根据欧洲神经肌肉中心指南的分类，23例患者患有重度先天性，29例中度先天性，66例典型先天性，19例儿童期发作，6例成人发作的线状体肌病。29例患者的遗传为常染色体隐性遗传，41例为常染色体显性遗传，72例为散发遗传，1例为不确定遗传。22名患者有骨骼肌肌动蛋白突变，4名患者有α-原肌球蛋白（SLOW）基因突变。产科并发症49例。75名患者在出生后的第一年内患有严重的呼吸道疾病，79名患者存在喂养困难。少数病例的非典型特征包括关节弯曲、中枢神经系统受累和先天性骨折。少数患者出现进行性远端无力。30名患者死亡，大多数在出生后的前12个月内死亡。所有的死亡都是由于呼吸功能不全，这在老年患者中经常被低估。关节弯曲、新生儿呼吸衰竭和未能达到早期运动里程碑与早期死亡率相关。呼吸道感染和喂养困难引起的发病率通常随着年龄的增长而减少。在大多数先天性线状体肌病病例中，积极的早期治疗是必要的。
We report 143 Australian and North American cases of primary nemaline myopathy. As classified by the European Neuromuscular Centre guidelines, 23 patients had severe congenital, 29 intermediate congenital, 66 typical congenital, 19 childhood-onset, and 6 adult-onset nemaline myopathy. Inheritance was autosomal recessive in 29 patients, autosomal dominant in 41, sporadic in 72, and indeterminate in 1. Twenty-two patients had skeletal muscle actin mutations and 4 had mutations in the alpha -tropomyosin(SLOW) gene. Obstetric complications occurred in 49 cases. Seventy-five patients had significant respiratory disease during the first year of life, and 79 had feeding difficulties. Atypical features in a minority of cases included arthrogryposis, central nervous system involvement, and congenital fractures. Progressive distal weakness developed in a minority of patients. Thirty patients died, the majority during the first 12 months of life. All deaths were due to respiratory insufficiency, which was frequently underrecognized in older patients. Arthrogryposis, neonatal respiratory failure, and failure to achieve early motor milestones were associated with early mortality. Morbidity from respiratory tract infections and feeding difficulties frequently diminished with increasing age. Aggressive early management is warranted in most cases of congenital nemaline myopathy.