Natural history of spinal muscular atrophy in children: an analysis of 117 cases / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 1038-1043, 2021.
Article
in En
| WPRIM
| ID: wpr-922388
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Muscular Atrophy, Spinal
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Spinal Muscular Atrophies of Childhood
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Retrospective Studies
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Sequence Deletion
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Homozygote
Type of study:
Observational_studies
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Prognostic_studies
Limits:
Child
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Humans
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Infant
Language:
En
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2021
Type:
Article