Triagem neonatal para Atrofia Muscular Espinhal – AME no âmbito do Sistema Único de Saúde – SUS: panorama, desafios e impacto social

Abstract

Spinal Muscular Atrophy (SMA) is a genetic degenerative neuromuscular disorder that causes progressive degeneration of motor neurons, leading to atrophy of skeletal muscles and impaired movement. SMA is the most common genetic cause of infant mortality. Thus, the earlier the diagnosis and the initiation of treatment, the less the degeneration of these motor neurons and the greater the prospects for treatment effectiveness, prognosis, and quality of life for these patients. With the enactment of Federal Law No. 14,154/21, SMA was included in the phased expansion of diseases screened by the newborn heel prick test. Objectives: In this context, the present study aimed to outline an overview of the diagnosis and follow-up of SMA within the Neonatal Screening Reference Services (SRTN) in Brazil under the Unified Health System (SUS). It also involved the development of an informational manual about the disease and ge-nerated three additional products: the publication of a book chapter on the topic of scientific dissemination of rare diseases, the creation of an informational folder also focused on rare di-seases, and an article on neonatal screening for SMA within the scope of the SUS. All of these were intended to provide information and to foster discussion on the subject. Methods: A ques-tionnaire was sent via e-SIC/Fala Brasil to the coordinators of all 29 Neonatal Screening Refe-rence Services in the country. All data were entered into a Microsoft Excel spreadsheet and analyzed using descriptive statistics. An informational manual was developed covering the di-sease, treatment options, and follow-up, also including information on reference centers, patient associations, specific legislation, and patients rights, to be made available in health services and patient associations. In addition, a book chapter addressing scientific dissemination on rare di-seases was published; an informational folder on the same topic was created; and a scientific article on neonatal screening for SMA within the scope of the SUS was prepared. Results: Through this research, we were able to assess the current status of SMA screening in the newborn heel prick test at the national level, thereby reinforcing the importance of prompt presymptomatic treatment and providing a basis for pursuing faster nationwide implementation of SMA screening in the newborn screening program within the SUS. The additional products generated (the Informational Manual on SMA, the book chapter on scientific dissemination in rare diseases, the informational folder on rare diseases, and the scientific article) contributed to expanding the dissemination of information and broadening the discussion of the topic. Con-clusion: We observed that although the law providing for the expansion of the newborn scree-ning program came into force in 2022, currently only two Brazilian states perform SMA scree-ning through the newborn heel prick test within the SUS. Studies and interventions addressing the importance and urgency of expanding neonatal screening for SMA should be strengthened, encouraged, and expanded, with the aim of contri-buting to improvements in the health status of these patients through the initiation of presymp-tomatic treatment as a means of preventing motor neuron degeneration.