# Spinal Muscular Atrophy in Colombia: Nationwide Incidence, Demographic Distribution, and Healthcare Challenges

## TL;DR

This study analyzes the incidence and healthcare challenges of spinal muscular atrophy in Colombia, highlighting regional disparities and the need for improved diagnosis and resource allocation.

## Contribution

The study provides the first nationwide analysis of SMA incidence in Colombia, revealing trends and regional disparities in diagnosis and healthcare access.

## Key findings

- SMA incidence increased until 2019, reaching 8.43 per 100,000 live births.
- SMA type 1 constitutes a significant proportion of cases, requiring intensive healthcare.
- Higher SMA incidence was observed in regions with better healthcare access, suggesting diagnostic variability.

## Abstract

Background: Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder marked by progressive motor neuron degeneration, leading to muscle weakness and atrophy. Although rare, SMA severely impacts morbidity and quality of life, especially through respiratory complications. Limited data on SMA in Colombia hampers healthcare planning, emphasizing the need for region-specific studies to guide resource allocation and policy development.

Methods: This descriptive, longitudinal study analyzed SMA incidence in Colombia from 2016 to 2024, using data from the National Public Health Surveillance System (SIVIGILA) and the Health Services Information System (RIPS). Incidence rates were calculated per 100,000 live births, focusing particularly on SMA type 1. Temporal trends and subgroup distributions (by gender and geographic region) were examined using descriptive statistics.

Results: SMA incidence showed an upward trend, peaking in 2019 at 8.43 per 100,000 live births before stabilizing. SMA type 1 cases, representing the most severe form, accounted for a significant proportion, highlighting the intensive healthcare demands associated with this subtype. Geographic disparities in incidence were observed, with higher rates in regions with greater healthcare access, suggesting variability in diagnostic and reporting practices across Colombia.

Conclusion: This study offers critical insights into SMA’s epidemiology in Colombia, underscoring the healthcare burden of SMA type 1 and regional disparities in case reporting. Findings support the need for improved SMA surveillance, targeted resources in high-incidence regions, and possible implementation of newborn screening to enhance early diagnosis and care. These actions are essential for aligning SMA management in Colombia with international standards and addressing healthcare inequities.