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脊髓性肌萎缩伴呼吸窘迫1型的研究进展 被引量:5

Progress of Spinal muscular atrophy with respiratory distress type 1
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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
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  • 2Eckart M, Guenther UP, Idkowiak J, et al. The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)[J]. Pediatrics,2012,129:el 48-156.
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  • 8Stalpers XL, Verrips A, Poll-The BT, et al. Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands [J]. Neuromuscul Disord,2013,23:461-468.
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