Progress of Spinal muscular atrophy with respiratory distress type 1
10.3760/cma.j.issn.2095-428X.2014.15.018
- VernacularTitle:脊髓性肌萎缩伴呼吸窘迫1型的研究进展
- Author:
Jiahui MAI
;
Chunxi HAN
- Publication Type:Journal Article
- Keywords:
Spinal muscular atrophy with respiratory distress type 1;
Immunoglobulin μ-binding protein 2 gene;
Diaphragmatic paralysis;
Respiratory failure
- From:
Chinese Journal of Applied Clinical Pediatrics
2014;29(15):1187-1190
- CountryChina
- Language:Chinese
-
Abstract:
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.
