Atrofia Muscular Espinhal no Brasil: Análise da mortalidade no período de 2012 a 2022

Abstract

INTRODUCTION: Spinal muscular atrophy (SMA) is a progressive neuromuscular genetic disease with an estimated incidence ranging from 1:6,000 to 1:11,000 live births. This condition results from the homozygous deletion or mutation of the survival motor neuron 1 (SMN1) gene located at 5q13. SMA is classified into four clinical types, and its severity is determined by the number of copies of the SMN2 gene. JUSTIFICATION: Understanding the profile of the population that has succumbed to this condition is a crucial strategy for implementing public policies aimed at addressing SMA in the country. OBJECTIVE: This study aims to analyze SMA-related mortality in Brazil according to sex, age group, and region of residence between 2012 and 2022. METHODS: This is an ecological, longitudinal, time-series study based on census data collected from the Mortality Information System (SIM). The analysis included deaths in which SMA was recorded as the underlying cause on the death certificate. RESULTS: In Brazil, between 2012 and 2022, a total of 15,831 deaths due to SMA were reported. During this period, SMA exhibited an increasing trend in mortality rates. The highest number of deaths was reported in the Southeast region, highlighting an association between residing in this region and an increased risk of mortality from SMA. However, no association was found between sex and SMA-related mortality. The study also revealed that, during this period, adults and the elderly exhibited higher mortality rates from SMA in the country.