摘要
神经肌肉病会由于肌肉或支配肌肉的神经异常而出现呼吸系统并发症，如反复呼吸道感染、急/慢性呼吸功能不全，或睡眠呼吸障碍等。单基因突变所致的遗传性神经肌肉病往往起病早、病情重，可能在出现典型的神经系统表现之前即有呼吸系统的相关表现而于呼吸科反复就诊或住院治疗，如脊肌萎缩症、脊髓性肌萎缩伴呼吸窘迫1型、SEPN1相关肌病等。在临床中需要评估神经肌肉病的呼吸系统受累情况，也可以通过胸片、血气分析、肺功能、睡眠监测等检查发现可能存在的神经肌肉病，并进一步检查确诊。
Many different types of neuromuscular disorders can affect respiratory function by either a muscle itself or the nerve（s） supplying that muscle.Patients with certain inherited neuromuscular diseases, such as spinal muscular atrophy, spinal muscular atrophy with respiratory distress type 1, SEPNl-related myopathies, can present with recurrent respiratory system infections, acute or chronic respiratory failure as well as sleep disordered breathing.The respiratory complications could show up even before the manifestation of neuromuscular diseases.The chest X-ray, blood gas analysis, spirometry, sleep studies etc can be used to assess the affected respiratory muscle function, and also can be used to prove the suspicion of the neuromuscular disorders.
作者
陈兰勤
许恙飞
Chen Lanqin, Xu Zhifei(National Children＇s Medical Center, Department of Respiratory,Belting Children＇s Hospital, Capital Medical University, National Clinical Research Center for Respiratory Diseases, Belting 100045, Chin)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2018年第4期313-316,共4页
Chinese Journal of Applied Clinical Pediatrics
关键词
神经肌肉病
基因突变
呼吸肌
呼吸衰竭
儿童
Neuromuscular disorder
Gene mutation
Respiratory muscle
Respiratory failure
Child
