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August 24, 2026
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Abstract

In recent years, pediatric neurology has witnessed significant advances in the development of disease-modifying therapies, with Spinal Muscular Atrophy (SMA) emerging as one of the most impactful conditions in this field. This article provides a comprehensive overview of the history of SMA, highlighting its evolving classification and the genetic basis underlying its clinical variability. Moreover, it outlines the development and clinical trial data of the three FDA- and EMA-approved therapies: nusinersen, onasemnogene abeparvovec, and risdiplam. These treatments have shifted SMA from a fatal diagnosis to a treatable condition, especially when initiated presymptomatically. Finally, the article discusses future directions, including combination therapies, novel pharmacological targets, biomarker development, and the need for ethical and equitable access to treatment worldwide. With ongoing research, SMA continues to serve as a paradigm for progress in neuromuscular medicine and the potential of personalized, gene-targeted therapies.

Keywords

spinal muscular atrophy spinal muscular atrophies of childhood survival of motor neuron 1 protein survival of motor neuron 2 protein genetic therapy antisense oligonucleotides newborn screening genetic carrier screening health services accessibility history of medicine

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Copyright (c) 2026 Jo Wilmshurst, Olcay Ünver, Prof. Haluk Topaloğlu

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Author Biographies

Jo Wilmshurst, University of Cape Town, Cape Town, South Africa

Pediatric Neurology Department
Red Cross War Memorial Children’s Hospital
Neuroscience Institute

Olcay Ünver, Marmara University School of Medicine, İstanbul

Department of Child Neurology

Prof. Haluk Topaloğlu, Yeditepe University, İstanbul

Department of Pediatrics

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Wilmshurst J, Ünver O, Topaloğlu H. Spinal muscular atrophy: history and current treatment landscape. JICNA [Internet]. 2026 Aug. 24 [cited 2026 Oct. 13];1(1). Available from: https://jicna.org/index.php/journal/article/view/327
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How to Cite

1.
Wilmshurst J, Ünver O, Topaloğlu H. Spinal muscular atrophy: history and current treatment landscape. JICNA [Internet]. 2026 Aug. 24 [cited 2026 Oct. 13];1(1). Available from: https://jicna.org/index.php/journal/article/view/327

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