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.
Artigo
em Inglês
| WPRIM
| ID: wpr-922388
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Atrofia Muscular Espinal
/
Atrofias Musculares Espinais da Infância
/
Estudos Retrospectivos
/
Deleção de Sequência
/
Homozigoto
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
Limite:
Criança
/
Humanos
/
Lactente
Idioma:
Inglês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2021
Tipo de documento:
Artigo
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