Arquivos de Neuro-Psiquiatria (Dec 2024)

A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care

  • Rodrigo Holanda Mendonça,
  • Juliane Suellen Arndt de Godoi,
  • Edmar Zanoteli

DOI
https://doi.org/10.1055/s-0044-1792096
Journal volume & issue
Vol. 82, no. 12
pp. 001 – 009

Abstract

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Background Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.

Keywords