摘要
脊髓性肌萎缩伴呼吸窘迫1型是一种罕见的常染色体隐性遗传性疾病.其致病基因免疫球蛋白μ结合蛋白2位于染色体11q13.3上,编码免疫球蛋白μ结合蛋白2.该病以脊髓前角α运动神经元变性为主要病理特征,以出生6周~6个月内出现不可逆的膈肌麻痹、呼吸衰竭、对称性四肢远端肌无力和肌萎缩为临床特点.患儿需要呼吸机辅助呼吸维持生命,预后不良.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease.It is caused by mutations in the gene immunoglobulin μ-binding protein 2 which resides on chromosome 11 q13.3 and encodes the immunoglobulin μ-binding protein 2.This disorder is characterized by degeneration of anterior horn α-motoneurons and manifesting as irreversible diaphragmatic paralysis,respiratory distress associated with progressive symmetrical muscular weakness,distal lower limbs mainly involved,and muscle atrophy between the first 6 weeks and 6 months of life.Overall,SMARD1 is a poor-prognosis disease that artificial ventilation is needed for the whole life.
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2014年第15期1187-1190,共4页
Chinese Journal of Applied Clinical Pediatrics
基金
深圳市发改委重点实验室项目(20128661)
关键词
脊髓性肌萎缩伴呼吸窘迫1型
免疫球蛋白μ结合蛋白2基因
膈肌麻痹
呼吸衰竭
Spinal muscular atrophy with respiratory distress type 1
Immunoglobulin μ-binding protein 2gene
Diaphragmatic paralysis
Respiratory failure