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

Figures

• 

  Figure 1. Annual distribution of SMA cases by type reported to SIVIGILA (2016-2024). This figure illustrates the annual number of spinal muscular atrophy (SMA) cases reported to SIVIGILA from 2016 to 2024, categorized by SMA type. The stacked bars represent the distribution of cases by type: SMA type 1 (green), SMA type 2 (blue), and SMA type 3 (yellow). The green line with data points depicts the total annual number of SMA cases reported. Notably, a peak in total SMA cases is observed in 2019, followed by a plateau and slight decrease in subsequent years. This trend may reflect improvements in diagnostic capabilities and healthcare access, as well as potential impacts from the COVID-19 pandemic on case reporting and healthcare priorities.

• 

  Figure 2. Annual frequency of healthcare encounters for patients with SMA types, from 2015 to 2024. This figure illustrates the higher frequency of clinical visits among SMA type 1 patients compared to other spinal muscular atrophy (SMA) types, reflecting the increased healthcare needs associated with the severe progression and symptoms of SMA type 1. These findings underscore the significant resource demands and the necessity for specialized support and interventions within the healthcare system to manage SMA type 1 effectively.

• 

  Figure 3. Sex distribution of SMA type 1 cases reported from 2015 to 2024. This figure illustrates the annual distribution of spinal muscular atrophy (SMA) type 1 cases by sex, with a generally balanced representation between male patients and female patients across the years. Although there are slight annual fluctuations, these variations do not suggest a significant sex-based trend in SMA type 1 prevalence. This indicates that sex does not appear to substantially influence the incidence or reporting of SMA type 1 in Colombia.

• 

  Figure 4. Sex distribution of SMA cases across all types from 2015 to 2024. This figure shows the yearly distribution of spinal muscular atrophy (SMA) cases by sex, including all SMA types. The data indicates a generally balanced representation between male patients and female patients over the study period, with some fluctuations each year. These findings suggest that sex does not significantly influence the occurrence or reporting trends of SMA cases in Colombia, supporting the conclusion that there is no notable sex-based bias in SMA prevalence.

• 

  Figure 5. Geographic distribution of SMA type 1 cases by department in Colombia. This figure shows the concentration of cases across departments, with some areas exhibiting higher numbers. Departments such as Valle del Cauca, Atlántico, Antioquia, and Bogotá have notably high counts of spinal muscular atrophy (SMA) type 1 cases. These regional differences may reflect variations in healthcare access, genetic factors, or diagnostic practices across regions. This geographic variation highlights the need for targeted healthcare resources and awareness programs in departments with higher case numbers to enhance access to diagnosis and treatment for SMA patients.