ArticleArquivos de neuro-psiquiatria2024
A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care.
Article in Arquivos de neuro-psiquiatria, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study.Clinical genetics · 2026Observational
- Real-world 12-month outcomes of Risdiplam in spinal muscular atrophy types 2 and 3: A Brazilian cohort.Clinics (Sao Paulo, Brazil) · 2026Article
- Nusinersen for type-III spinal muscular atrophy: a 12-month retrospective study in a Brazilian cohort.Arquivos de neuro-psiquiatria · 2026Article
- Adult Survival in SMA Type 1: A 23-Year Journey With Home Ventilation and Multidisciplinary Support.Clinical case reports · 2026Article
- Thrombotic microangiopathy following gene therapy for 5q-spinal muscular atrophy.Gene therapy · 2025Article
- Comprehensive Risdiplam Synthesis Overview: From Cross-Coupling Reliance to Complete Palladium Independence.Molecules (Basel, Switzerland) · 2025Review
- Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study.Lancet regional health. Americas · 2025Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the
objectiveTo describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q.
methodsUp to January 2022, 706 patients with confirmed genetic diagnosis of SMA-5q, or their parents, completed a self-reported questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.
resultsMost patients had type 1 SMA-5q (42%); with 33% having type 2, and 23% type 3. There were 667 patients (94.4%) with a homozygous
conclusionThere is still a substantial diagnostic delay, especially in those patients with types 2 and 3 SMA-5q. However, the present study demonstrated prolonged survival, especially in type 1 patients.
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