Work

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

Year: 2024

Type: article

Abstract: BACKGROUND: 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: -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.

Source: Arquivos de Neuro-Psiquiatria

DOI: 10.1055/s-0044-1792096

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

Institution: Universidade de São Paulo

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $200