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November 9, 2025Arquivos de Neuro-PsiquiatriaOpen Access

Clinical and motor functional evaluation of patients with bi-allelic disease-causing variants in SMN1 gene and two copies of SMN2 treated in the pre-symptomatic stage

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Authors

RSRaquel Diógenes Alencar SindeauxRMRodrigo Holanda MendonçaJBJoemir Jábson da Conceição Brito

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Overview

Clinical evaluation shows early treatment improves outcomes in pre-symptomatic spinal muscular atrophy patients, suggesting timely intervention is crucial.

Key Points

  • Six pre-symptomatic patients treated for spinal muscular atrophy showed positive outcomes after early intervention and regular follow-up.
  • Patients started treatment with risdiplam or nusinersen, with some switching to zolgensma for its single-dose efficacy.
  • Neurological examinations and motor assessments indicated that patients met developmental milestones appropriate for their age.
  • Adverse effects were reported in some patients, emphasizing the need for careful monitoring during treatment.

Cite This Study

Sindeaux et al. (2024) studied this question.

synapsesocial.com/papers/690fdce2f60c54d04ea384fbhttps://doi.org/10.5327/cbn240382
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Risdiplam in Presymptomatic Spinal Muscular Atrophy2025 · 38 citations
  2. 2Five-year disease-modifying therapeutic experience of 102 Chinese paediatric 5q-spinal muscular atrophy: a retrospective analysis2025
  3. 3Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience2025 · 1 citations
  4. 4Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy2025
  5. 5Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening2025 · 1 citations