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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Published in:Neuromuscular disorders : NMD 2022-07, Vol.32 (7), p.575-577
Main Authors: 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
Format: Article
Language:English
Subjects:
Early treatment
Spinal muscular atrophy
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Summary:•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.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2022.06.002