Inherited neuromuscular disorders presented initially or mainly with respiratory manifestation
10.3760/cma.j.issn.2095-428X.2018.04.019
- VernacularTitle:以呼吸系统表现为首发或主要表现的单基因遗传性神经肌肉病
- Author:
Lanqin CHEN
1
;
Zhifei XU
Author Information
1. 100045 国家儿童医学中心,首都医科大学附属北京儿童医院呼吸科,国家呼吸系统疾病临床医学研究中心
- Keywords:
Neuromuscular disorder;
Gene mutation;
Respiratory muscle;
Respiratory failure;
Child
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(4):313-316
- CountryChina
- Language:Chinese
-
Abstract:
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.
