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Published: 2023-01-10
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DOI: https://doi.org/10.52852/tcncyh.v160i12V1.1110
Issue
Vol. 160 No. 12V1 (2022)
Section
Các bài báo
How to Cite
Khánh, N. N. ., Thành, N. T. ., & Dũng, V. C. . (2023). 17. Current status of spinal muscular atrophy at the Vietnam National Children’s Hospital for 6 years 2016 - 2021 . Journal of Medical Research, 160(12V1), 121-126. https://doi.org/10.52852/tcncyh.v160i12V1.1110

17. Current status of spinal muscular atrophy at the Vietnam National Children’s Hospital for 6 years 2016 - 2021

Nguyen Ngoc Khanh, Nguyen Trong Thanh, Vu Chi Dung

Main Article Content

Abstract

Spinal Muscular Atrophy (SMA) is a neuromuscular disease characterized by progressive symmetric proximal muscle weakness and hypotonia. This a descriptive study on distribution, characteristics of phenotype and natural history of SMA in 5 years at the National Children's Hospital. 191 SMA patients were distributed as 66 (34.6%) type I, 86 (45.1%) type II and 39 (20.3%) type III. 42 (22%) children had a sibling with SMA. The diagnosed age of types I, II and III are 4.5 months, 2 years and 5.5 years, respectively. Progression of SMA type I was the most severe: 87.2% died at medium age of 10.5 months from pneumonia and respiratory failure, 53% SMA type III needed assisted sitting, 56.4% SMA type III cannot walk. The scoliosis rate of SMA type I, II and III were 75%, 74% and 56%, respectively. Conclusion: The most common SMA is type II, followed by type I, type III. The progression of SMA type I was the worst. The scoliosis and motor degeneration were the most common complications.

Article Details

Keywords

Spinal Muscular Atrophy, SMA, SMN gene

References

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