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CC BY 4.0 · Arq Neuropsiquiatr 2024; 82(12): s00441792096
DOI: 10.1055/s-0044-1792096
Original Article

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

Um cadastro brasileiro autorrelatado de atrofia muscular espinhal 5q: dados de história natural, características genéticas e cuidados multidisciplinares
Rodrigo Holanda Mendonça 
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
,
Juliane Suellen Arndt de Godoi 
2   Instituto Nacional da Atrofia Muscular Espinhal, São Paulo SP, Brazil.
,
Edmar Zanoteli 
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
› Institutsangaben
Support The authors declare that they received financial support from Novartis Biociências and Roche Pharmaceuticals to conduct the present study.
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Abstract

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 questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.

Results Most 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 SMN1-exon 7 deletion. Of the total, 131 (18.6%) patients had a previous family history of the disease, and the familial recurrence rate was higher in type 3 (25.6%). Type 1 patients had a mean age of 3 months at the onset of symptoms and a delay of more than 3 months until genetic diagnosis. The median survival of patients with type 1 without invasive ventilation was 27 months. Before 2018, the median age of use of invasive ventilation was 16 months and, after, most patients (71%) were not submitted to invasive ventilation. About 50% of patients with type 3 lost their walking ability by 37 years of age. Further, 384 (54.4%) patients had access to disease-modifying therapy, and 62.3% of type 1 patients were in treatment, compared with only 47.2% of type 2 and 31.9% of type 3 patients.

Conclusion There 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.

Resumo

Antecedentes A atrofia muscular espinhal ligada ao cromossomo 5q (AME-5q) é uma doença neurodegenerativa causada por mutações no gene SMN1.

Objetivo Descrever as principais características demográficas, clínicas e genéticas, assim como dados de história natural de pacientes com AME-5q no nosso meio.

Métodos Até janeiro de 2022, 706 pacientes com diagnóstico genético confirmado de AME-5q, ou seus pais, preencheram questionário sobre dados de história natural, características genéticas, tratamento medicamentoso e cuidados multidisciplinares.

Resultados A maioria dos pacientes tinha AME-5q tipo 1 (42%); 33% tinham tipo 2 e 23% tipo 3. Deleção homozigótica no SMN1 foi notada em 667 pacientes (94,4%). Do total, 131 (18,6%) pacientes tinham história familiar prévia, e a taxa de recorrência familiar foi maior no tipo 3 (25,6%). Os pacientes com tipo 1 tinham idade média de 3 meses no início dos sintomas e atraso de mais de 3 meses até o diagnóstico genético. A sobrevida mediana de pacientes com tipo 1 sem ventilação invasiva foi de 27 meses. Antes de 2018, a idade mediana de uso de ventilação invasiva era de 16 meses e, após, a maioria dos pacientes (71%) não foi submetida a ventilação invasiva. Cerca de 50% dos pacientes com tipo 3 perderam a marcha em média aos 37 anos de idade. Além disso, 384 (54,4%) pacientes tiveram acesso a alguma terapia modificadora da doença; 62,3% dos pacientes tipo 1 estavam sendo tratados, comparados a 47.2% do tipo 2 e 31.9% do tipo 3.

Conclusão Ainda existe um atraso substancial para o diagnóstico, especialmente nos pacientes com AME-5q tipos 2 e 3. Contudo, o presente estudo demonstrou sobrevida prolongada em pacientes tipo 1.

Keywords

Muscular Atrophy, Spinal - Survival of Motor Neuron 1 Protein - Natural History - Registries

Palavras-chave

Atrofia Muscular Espinal - Proteína 1 de Sobrevivência do Neurônio Motor - História Natural - Sistema de Registros

Authors' Contributions

RHM: data acquisition, study conception and design, and review and approval of the final version of the manuscript; JSAG: data acquisition and study conception; EZ: study design and review and approval of the final version of the manuscript.


Editor-in-Chief: Hélio A. G. Teive.


Associate Editor: Paulo José Lorenzoni.




Publikationsverlauf

Eingereicht: 09. Mai 2024

Angenommen: 11. August 2024

Artikel online veröffentlicht:
20. Dezember 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
Rodrigo Holanda Mendonça, Juliane Suellen Arndt de Godoi, Edmar Zanoteli. A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care. Arq Neuropsiquiatr 2024; 82: s00441792096.
DOI: 10.1055/s-0044-1792096