The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever

• Published in: Neuromuscular disorders : NMD Vol. 32; no. 7; pp. 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: Journal Article
• Language: English
• Published: Elsevier B.V 01-07-2022
• Subjects: Early treatment; Spinal muscular atrophy; Early treatment; Spinal muscular atrophy
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2022.06.002

•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.