• Medicina · Aug 2022

    Review

    [Update on spinal muscular atrophy treatment].

    • Erazo TorricelliRicardoRUnidad Neuromuscular, Hospital Luis Calvo Mackenna, Providencia, Santiago de Chile, Chile. E-mail: ricardoerazo@yahoo.com..
    • Unidad Neuromuscular, Hospital Luis Calvo Mackenna, Providencia, Santiago de Chile, Chile. E-mail: ricardoerazo@yahoo.com.
    • Medicina (B Aires). 2022 Aug 30; 82 Suppl 3: 76-81.

    AbstractSpinal muscular atrophy (SMA) has been known as a clinical entity for 130 yearsis still recognized today as the most severe autosomal recessive neuromuscular disease (5q,13,2) in pediatrics. Until 2015, SMA treatment was limited to ventilatory, nutritional, and physical therapy support. Currently, the existence of genetic treatments: gene modification by inclusion of exon 7 to the SMN2 gene (nusinersen and risdiplam) or insertion of the SMN1 gene through the adeno-associated viral transporter (onasemnogene) have radically modified the clinical evolution of children with SMA,especially if they are treated early. This review details the effects of the 3 treatments currently in use worldwide.

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