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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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