Friedreich's Ataxia in Colombia: A Population-Based Study of Incidence and Socioeconomic Determinants.

BACKGROUND

Friedreich's ataxia (FA) is the most common hereditary ataxia in people of European ancestry. Diagnosis requires molecular confirmation, which is challenging in low-resource settings. Although FA is listed in Colombia's national registry of orphan diseases, no population-based study has described its epidemiologic or sociodemographic features.

OBJECTIVE

To estimate FA incidence in Colombia and characterize geographic distribution, age at diagnosis, educational attainment, and employment status.

METHODS

We performed a descriptive, retrospective, cross-sectional study using Colombia's National Public Health Surveillance System (SIVIGILA) from 2017-2024. Only genetically confirmed cases-biallelic GAA repeat expansions in FXN-were included. Variables were annual and cumulative incidence (per 1,000,000), departmental distribution, age at diagnosis, education level, and occupational status. Because age at symptom onset was unavailable, age at diagnosis was used as a proxy.

RESULTS

Ninety-two genetically confirmed cases were identified across 17 departments. Bogotá registered the most cases (32.6%), whereas Vichada showed the highest adjusted cumulative incidence (58.33 per million). The 10-19-year group accounted for the largest share of diagnoses (35.9%); 23.9% were diagnosed at ≥40 years. Marked social vulnerability was observed: 27.2% had no formal education and 60.9% were outside the labor force.

CONCLUSION

This first nationwide report of FA in Colombia shows low incidence, pronounced regional disparities, frequent diagnoses in older age groups, and substantial socioeconomic exclusion. Expanding molecular diagnostics, strengthening surveillance, and implementing equity-focused health policies are urgently needed to enable earlier detection and comprehensive multidisciplinary care. © 2025 International Parkinson and Movement Disorder Society.