The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever
•Treatment of SMA within the first days of life may result in essentially normal outcome.•Early diagnosis of SMA is mandatory for the outcome of treatment. New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases...
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| Veröffentlicht in: | Neuromuscular disorders : NMD 2022-07, Vol.32 (7), p.575-577 |
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| container_title | Neuromuscular disorders : NMD |
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| creator | Ünver, Olcay Çelik, Tolga Memişoğlu, Aslı Büyükbayrak, Esra Esim Tülin Şimşek, Fatma Öztürk, Gülten Eser, Gökçe Saygı, Evrim Karadağ Gökdemir, Yasemin Aktekin, Berin Türkdoğan, Dilşad Topaloğlu, Haluk |
| description | •Treatment of SMA within the first days of life may result in essentially normal outcome.•Early diagnosis of SMA is mandatory for the outcome of treatment.
New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome. |
| doi_str_mv | 10.1016/j.nmd.2022.06.002 |
| format | Article |
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New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome.</description><subject>Early treatment</subject><subject>Spinal muscular atrophy</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><recordid>eNp9kEtPwzAQhC0EEqXwA7j5yCXBrzgJnKqKl1TEgXK2HGejuMqj2E5R_z2OypnTrkYzs9oPoVtKUkqovN-lQ1-njDCWEpkSws7QghY5TxiX4hwtSClJUpRSXqIr73eE0CyX-QLtty3gcQpm7ONscPgZ8ef7ChvtwePgQAeo8Y8NLR4mbwdwHgasA_ZwiEs7Ts5jPdSzFFoHgGt99HNTZxt4iBpg0K6z4AOOEXeNLhrdebj5m0v09fy0Xb8mm4-Xt_VqkxhGWUiqjFc0EyKHsinKWuRUQ14VhRFcZIRxKFidsZIbk1U6B8EayZiodNWUhoI0fInuTr17N35P8brqrTfQdXqAcfKKyYISUXLGo5WerMaN3jto1N7ZXrujokTNdNVORbpqpquIVJFuzDyeMhB_OFhwyhsLg4HaOjBB1aP9J_0Ljn2Cqw</recordid><startdate>202207</startdate><enddate>202207</enddate><creator>Ünver, Olcay</creator><creator>Çelik, Tolga</creator><creator>Memişoğlu, Aslı</creator><creator>Büyükbayrak, Esra Esim</creator><creator>Tülin Şimşek, Fatma</creator><creator>Öztürk, Gülten</creator><creator>Eser, Gökçe</creator><creator>Saygı, Evrim Karadağ</creator><creator>Gökdemir, Yasemin</creator><creator>Aktekin, Berin</creator><creator>Türkdoğan, Dilşad</creator><creator>Topaloğlu, Haluk</creator><general>Elsevier B.V</general><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-3545-3830</orcidid></search><sort><creationdate>202207</creationdate><title>The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever</title><author>Ünver, Olcay ; Çelik, Tolga ; Memişoğlu, Aslı ; Büyükbayrak, Esra Esim ; Tülin Şimşek, Fatma ; Öztürk, Gülten ; Eser, Gökçe ; Saygı, Evrim Karadağ ; Gökdemir, Yasemin ; Aktekin, Berin ; Türkdoğan, Dilşad ; Topaloğlu, Haluk</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c212t-b53b15447e9f89d471ae7b88c4345023e82d5293cc5ba7e42f6224babf9c1e6c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Early treatment</topic><topic>Spinal muscular atrophy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ünver, Olcay</creatorcontrib><creatorcontrib>Çelik, Tolga</creatorcontrib><creatorcontrib>Memişoğlu, Aslı</creatorcontrib><creatorcontrib>Büyükbayrak, Esra Esim</creatorcontrib><creatorcontrib>Tülin Şimşek, Fatma</creatorcontrib><creatorcontrib>Öztürk, Gülten</creatorcontrib><creatorcontrib>Eser, Gökçe</creatorcontrib><creatorcontrib>Saygı, Evrim Karadağ</creatorcontrib><creatorcontrib>Gökdemir, Yasemin</creatorcontrib><creatorcontrib>Aktekin, Berin</creatorcontrib><creatorcontrib>Türkdoğan, Dilşad</creatorcontrib><creatorcontrib>Topaloğlu, Haluk</creatorcontrib><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ünver, Olcay</au><au>Çelik, Tolga</au><au>Memişoğlu, Aslı</au><au>Büyükbayrak, Esra Esim</au><au>Tülin Şimşek, Fatma</au><au>Öztürk, Gülten</au><au>Eser, Gökçe</au><au>Saygı, Evrim Karadağ</au><au>Gökdemir, Yasemin</au><au>Aktekin, Berin</au><au>Türkdoğan, Dilşad</au><au>Topaloğlu, Haluk</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><date>2022-07</date><risdate>2022</risdate><volume>32</volume><issue>7</issue><spage>575</spage><epage>577</epage><pages>575-577</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>•Treatment of SMA within the first days of life may result in essentially normal outcome.•Early diagnosis of SMA is mandatory for the outcome of treatment.
New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome.</abstract><pub>Elsevier B.V</pub><doi>10.1016/j.nmd.2022.06.002</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0002-3545-3830</orcidid></addata></record> |
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| ispartof | Neuromuscular disorders : NMD, 2022-07, Vol.32 (7), p.575-577 |
| issn | 0960-8966 1873-2364 |
| language | eng |
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| source | Access via ScienceDirect (Elsevier) |
| subjects | Early treatment Spinal muscular atrophy |
| title | The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever |
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