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

Ünver O., Çelik T., Memişoğlu A., Büyükbayrak E. E., Tülin Şimşek F., Öztürk G., ...Daha Fazla

Neuromuscular Disorders, cilt.32, sa.7, ss.575-577, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 7
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1016/j.nmd.2022.06.002
  • Dergi Adı: Neuromuscular Disorders
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.575-577
  • Anahtar Kelimeler: Early treatment, Spinal muscular atrophy
  • Hacettepe Üniversitesi Adresli: Evet

Özet

© 2022New 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.