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.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Atrofia Muscular Espinal
/
Atrofias Musculares Espinales de la Infancia
/
Estudios Retrospectivos
/
Eliminación de Secuencia
/
Homocigoto
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Límite:
Niño
/
Humanos
/
Lactante
Idioma:
Inglés
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2021
Tipo del documento:
Artículo
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