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Newborn screening for spinal muscular atrophy in Japan: One year of experience

Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to loss of the anterior horn cells of the spinal cord. Although effective treatments, such as gene therapy, have emerged in recent years, their therapeutic efficacy depends o...

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Autores principales: Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Ozasa, Shiro, Nomura, Keiko, Okada, Kentaro, Fujiyama, Natsumi, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356196/
https://www.ncbi.nlm.nih.gov/pubmed/35942129
http://dx.doi.org/10.1016/j.ymgmr.2022.100908
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author Sawada, Takaaki
Kido, Jun
Sugawara, Keishin
Yoshida, Shinichiro
Ozasa, Shiro
Nomura, Keiko
Okada, Kentaro
Fujiyama, Natsumi
Nakamura, Kimitoshi
author_facet Sawada, Takaaki
Kido, Jun
Sugawara, Keishin
Yoshida, Shinichiro
Ozasa, Shiro
Nomura, Keiko
Okada, Kentaro
Fujiyama, Natsumi
Nakamura, Kimitoshi
author_sort Sawada, Takaaki
collection PubMed
description Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to loss of the anterior horn cells of the spinal cord. Although effective treatments, such as gene therapy, have emerged in recent years, their therapeutic efficacy depends on a restricted time window of treatment initiation. For the treatment to be effective, it must be started before symptoms of the disease emerge. For this purpose, newborn screening (NBS) for SMA is conducted in many countries worldwide. The NBS program for SMA has been initiated in Japan in several regions, including the Kumamoto Prefecture. We started the NBS program in February 2021 and detected a patient with SMA after screening 13,587 newborns in the first year. Herein, we report our experience with the NBS program for SMA and discuss an issue to be approached in the future.
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spelling pubmed-93561962022-08-07 Newborn screening for spinal muscular atrophy in Japan: One year of experience Sawada, Takaaki Kido, Jun Sugawara, Keishin Yoshida, Shinichiro Ozasa, Shiro Nomura, Keiko Okada, Kentaro Fujiyama, Natsumi Nakamura, Kimitoshi Mol Genet Metab Rep Article Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to loss of the anterior horn cells of the spinal cord. Although effective treatments, such as gene therapy, have emerged in recent years, their therapeutic efficacy depends on a restricted time window of treatment initiation. For the treatment to be effective, it must be started before symptoms of the disease emerge. For this purpose, newborn screening (NBS) for SMA is conducted in many countries worldwide. The NBS program for SMA has been initiated in Japan in several regions, including the Kumamoto Prefecture. We started the NBS program in February 2021 and detected a patient with SMA after screening 13,587 newborns in the first year. Herein, we report our experience with the NBS program for SMA and discuss an issue to be approached in the future. Elsevier 2022-08-02 /pmc/articles/PMC9356196/ /pubmed/35942129 http://dx.doi.org/10.1016/j.ymgmr.2022.100908 Text en © 2022 Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Sawada, Takaaki
Kido, Jun
Sugawara, Keishin
Yoshida, Shinichiro
Ozasa, Shiro
Nomura, Keiko
Okada, Kentaro
Fujiyama, Natsumi
Nakamura, Kimitoshi
Newborn screening for spinal muscular atrophy in Japan: One year of experience
title Newborn screening for spinal muscular atrophy in Japan: One year of experience
title_full Newborn screening for spinal muscular atrophy in Japan: One year of experience
title_fullStr Newborn screening for spinal muscular atrophy in Japan: One year of experience
title_full_unstemmed Newborn screening for spinal muscular atrophy in Japan: One year of experience
title_short Newborn screening for spinal muscular atrophy in Japan: One year of experience
title_sort newborn screening for spinal muscular atrophy in japan: one year of experience
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356196/
https://www.ncbi.nlm.nih.gov/pubmed/35942129
http://dx.doi.org/10.1016/j.ymgmr.2022.100908
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