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Purpose of Review <p>This review summarizes recent advances in the diagnosis and treatment of spinal muscular atrophy (SMA), with emphasis on newborn screening, disease-modifying therapies, and emerging treatment strategies.</p> Recent Findings <p>Newborn screening has enabled presymptomatic diagnosis of SMA leading to early treatment, resulting in markedly improved survival and motor outcomes compared with historical natural history. As of 2025, there are three approved disease-modifying therapies nusinersen, risdiplam and onasemnogene abeparvovec. Each increase functional survival motor neuron (SMN) protein through distinct mechanisms and demonstrate greatest functional benefit when initiated earlier in the disease. Real-world and long-term data support sustained benefit across age groups but also highlight persistent functional limitations and treatment specific safety and delivery considerations. Emerging therapies aim to optimize SMN restoration, reduce treatment burden and address residual muscle weakness through non-SMN approaches.</p> Summary <p>Early diagnosis and initiation of disease-modifying therapy have fundamentally changed the prognosis of SMA. Future directions in SMA therapies include next-generation SMN-targeted therapies and muscle-targeted therapies. Improved outcomes will depend on optimizing therapeutic strategies, addressing unmet needs in symptomatically treated patients and expanding equitable access to screening and treatment worldwide.</p>

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Spinal Muscular Atrophy: Advances in Diagnosis, Treatment, and Emerging Therapies

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月30日

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  • Fang Yu,
  • Danielle Kei Pua,
  • Brittany Zaita,
  • Aaron S. Zelikovich,
  • Jin Li,
  • Dennis J. Keselman

摘要

Purpose of Review

This review summarizes recent advances in the diagnosis and treatment of spinal muscular atrophy (SMA), with emphasis on newborn screening, disease-modifying therapies, and emerging treatment strategies.

Recent Findings

Newborn screening has enabled presymptomatic diagnosis of SMA leading to early treatment, resulting in markedly improved survival and motor outcomes compared with historical natural history. As of 2025, there are three approved disease-modifying therapies nusinersen, risdiplam and onasemnogene abeparvovec. Each increase functional survival motor neuron (SMN) protein through distinct mechanisms and demonstrate greatest functional benefit when initiated earlier in the disease. Real-world and long-term data support sustained benefit across age groups but also highlight persistent functional limitations and treatment specific safety and delivery considerations. Emerging therapies aim to optimize SMN restoration, reduce treatment burden and address residual muscle weakness through non-SMN approaches.

Summary

Early diagnosis and initiation of disease-modifying therapy have fundamentally changed the prognosis of SMA. Future directions in SMA therapies include next-generation SMN-targeted therapies and muscle-targeted therapies. Improved outcomes will depend on optimizing therapeutic strategies, addressing unmet needs in symptomatically treated patients and expanding equitable access to screening and treatment worldwide.