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Article

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

Arquivos de neuro-psiquiatria - 1 Dec 2024

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

Abstract excerpt

BACKGROUND: Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene. OBJECTIVE: To describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q. METHODS: Up to January 2022, 706 patients with confirmed genetic diagnosis of SMA-5q, or their parents, completed a self-reported...

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PMID: 39706225
DOI: 10.1055/s-0044-1792096

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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