INEQUALITIES IN COMPREHENSIVE ACCESS TO HEALTH CARE IN PATIENTS WITH SPINAL MUSCULAR ATROPHY AND THE ROLE OF PUBLIC POLICIES

Abstract

Introduction: Spinal Muscular Atrophy (SMA) is a rare, progressive, and costly genetic disease that poses severe challenges to the Brazilian healthcare system. Caused by mutations in the SMN1 gene, SMA affects motor neurons and requires early diagnosis and highly complex therapies to ensure better clinical outcomes. Objective: This study aims to identify the main inequalities in access to diagnosis, treatment, and comprehensive care for patients with SMA in Brazil, analyzing the advances and challenges of public policies in this context. Method: This is a narrative literature review conducted between April and July 2025. The search was conducted in scientific databases such as Scientific Electronic Library Online (SciELO), National Library of Medicine (PubMed), and Latin American and Caribbean Literature in Health Sciences (LILACS), as well as official documents published by the Ministry of Health (MS), National Commission for the Incorporation of Technologies into the Unified Health System (CONITEC), and other relevant public bodies. Results: Profound regional, economic, and sociocultural disparities in access to care are noted, particularly the high cost of treatments, the scarcity of specialized centers outside the Southeast region, the limited number of trained professionals, logistical barriers, and the low reach of neonatal screening. These factors contribute to unequal access to treatment, especially for the most vulnerable populations. Although regulatory frameworks such as the National Policy for Care for People with Rare Diseases and the expansion of the heel prick test (Law No. 14,154/2021) represent progress, their implementation is fragmented and compromised by underfunding, judicialization, and failures in intersectoral coordination. Conclusion: To guarantee the right to health for this population, it is necessary to consolidate strategies that promote equity, such as strengthening primary care, expanding the rehabilitation network, continuing professional training, including caregiver support programs, and the territorial expansion of specialized services. The implementation of these actions requires not only regulatory guidelines, but also political commitment, sustainable resources, and active social participation.