Natural history of spinal muscular atrophy in children: an analysis of 117 cases.
10.7499/j.issn.1008-8830.2106025
- Author:
Yun-Ying YANG
1
;
Ping YUAN
1
;
Mei LI
1
;
Li JIANG
1
;
Si-Qi HONG
1
Author Information
1. Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/China International Science and Technology Cooperation Base of Child Development and Critical Disorders/Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders, Chongqing 400014, China (Hong S-Q, Email: siqihong@hotmail.com).
- Publication Type:Journal Article
- Keywords:
Child;
Natural history;
SMN1 gene;
Spinal muscular atrophy;
Survival analysis
- MeSH:
Child;
Homozygote;
Humans;
Infant;
Muscular Atrophy, Spinal/genetics*;
Retrospective Studies;
Sequence Deletion;
Spinal Muscular Atrophies of Childhood/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(10):1038-1043
- CountryChina
- Language:English
-
Abstract:
OBJECTIVES:To study the natural history of spinal muscular atrophy (SMA) in Chongqing and surrounding areas, China, and to provide a clinical basis for comprehensive management and gene modification therapy for SMA.
METHODS:A retrospective analysis was performed on the medical data and survival status of 117 children with SMA.
RESULTS:Of the 117 children, 62 (53.0%) had type 1 SMA, 45 (38.5%) had type 2 SMA, and 10 (8.5%) had type 3 SMA, with a median age of onset of 2 months, 10 months, and 15 months, respectively. Compared with the children with type 2 SMA or type 3 SMA, the children with type 1 SMA had significantly shorter time to onset, consultation, and confirmed diagnosis (
CONCLUSIONS:There are differences in clinical manifestations and survival rates among children with different types of SMA. The children with type 1 SMA have a low survival rate, and those with type 2 SMA may have non-linear regression of motor ability. Early identification and management of SMA should be performed in clinical practice.
