Reviews of spinal muscular atrophy in Taiwan
Spinal muscular atrophy (SMA) is one of the rare life-threatening hereditary autosomal recessive disorders. SMA is caused by the absence of a fully functional motor neuron protein gene that produces the survival motor neuron (SMN) protein. The SMN protein is encoded by two SMN genes: SMN1, which is...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Tungs’ Medical Journal |
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| Online Access: | https://doi.org/10.4103/ETMJ.ETMJ-D-24-00033 |
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| author | Yung-Hsiu Lu Wei-Sheng Lin Dau-Ming Niu Ting-Rong Hsu |
| author_facet | Yung-Hsiu Lu Wei-Sheng Lin Dau-Ming Niu Ting-Rong Hsu |
| author_sort | Yung-Hsiu Lu |
| collection | DOAJ |
| description | Spinal muscular atrophy (SMA) is one of the rare life-threatening hereditary autosomal recessive disorders. SMA is caused by the absence of a fully functional motor neuron protein gene that produces the survival motor neuron (SMN) protein. The SMN protein is encoded by two SMN genes: SMN1, which is the SMA-determining gene, and SMN2, which copies the severity modifier. With the advancement of medicine, the Food and Drug Administration has approved three disease-modifying therapies that could now be reimbursed with limited conditions in Taiwan. The SMA screening program was started in 2016 and 2017 in three newborn screening centers in Taiwan; consequently, patients with SMA were diagnosed and treated earlier. This study reviewed the new therapies for SMA, the newborn screening experience, the treatment history and criteria in Taiwan, and the problems encountered. More work is still needed to increase the rate of SMA screening and to possibly provide earlier treatment. |
| format | Article |
| id | doaj-art-ebe2938f5c0d477e979b2ded1734bb5a |
| institution | Kabale University |
| issn | 2071-3592 2949-9720 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Tungs’ Medical Journal |
| spelling | doaj-art-ebe2938f5c0d477e979b2ded1734bb5a2025-01-17T10:57:17ZengWolters Kluwer Medknow PublicationsTungs’ Medical Journal2071-35922949-97202024-12-01182556010.4103/ETMJ.ETMJ-D-24-00033Reviews of spinal muscular atrophy in TaiwanYung-Hsiu LuWei-Sheng LinDau-Ming NiuTing-Rong HsuSpinal muscular atrophy (SMA) is one of the rare life-threatening hereditary autosomal recessive disorders. SMA is caused by the absence of a fully functional motor neuron protein gene that produces the survival motor neuron (SMN) protein. The SMN protein is encoded by two SMN genes: SMN1, which is the SMA-determining gene, and SMN2, which copies the severity modifier. With the advancement of medicine, the Food and Drug Administration has approved three disease-modifying therapies that could now be reimbursed with limited conditions in Taiwan. The SMA screening program was started in 2016 and 2017 in three newborn screening centers in Taiwan; consequently, patients with SMA were diagnosed and treated earlier. This study reviewed the new therapies for SMA, the newborn screening experience, the treatment history and criteria in Taiwan, and the problems encountered. More work is still needed to increase the rate of SMA screening and to possibly provide earlier treatment.https://doi.org/10.4103/ETMJ.ETMJ-D-24-00033gene therapynewborn screeningspinal muscular atrophytreatment |
| spellingShingle | Yung-Hsiu Lu Wei-Sheng Lin Dau-Ming Niu Ting-Rong Hsu Reviews of spinal muscular atrophy in Taiwan Tungs’ Medical Journal gene therapy newborn screening spinal muscular atrophy treatment |
| title | Reviews of spinal muscular atrophy in Taiwan |
| title_full | Reviews of spinal muscular atrophy in Taiwan |
| title_fullStr | Reviews of spinal muscular atrophy in Taiwan |
| title_full_unstemmed | Reviews of spinal muscular atrophy in Taiwan |
| title_short | Reviews of spinal muscular atrophy in Taiwan |
| title_sort | reviews of spinal muscular atrophy in taiwan |
| topic | gene therapy newborn screening spinal muscular atrophy treatment |
| url | https://doi.org/10.4103/ETMJ.ETMJ-D-24-00033 |
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