Clinical features and quality of life of patients with amyotrophic lateral sclerosis at a specialized care service in Salvador-BA

Background: Amyotrophic lateral sclerosis (ALS) is a rare and progressive neurodegenerative disease that affects motor neurons in the spinal cord, brainstem, and motor cortex. Often misdiagnosed or undiagnosed until its later stages, there are only palliative treatments, leading to a fatal prognosis. Consequently, it is a condition that burdens healthcare systems worldwide, causing loss of productivity and quality of life for patients and their caregivers. In Brazil, there is a lack of research on its clinical profile and epidemiology, which makes it challenging to analyze the disease in the country. Objective: To describe the clinical features and quality of life of ALS patients treated at a specialized care service in Salvador, Bahia. Methods: This was a cross-sectional observational study involving primary data collection. Patients with a diagnosis of definite ALS (by El Escorial criteria) followed up at the service from February 1, 2022, to July 31, 2023, were included. The following data was collected: gender, age, race, city of residence, disease stage (by Kings College staging), clinical phenotype, onset symptom location, main clinical signs, and complications. Furthermore, a series of questionnaires were applied, including the ALSFRS-R, EQ-5D, and WPAI-GH. The variables were summarized and subjected to descriptive statistical analysis. Results: A total of 28 patients were included in the study, with a mean age (SD) of 57 years (12). Most patients were male (64.29%) and brown (64.29%). Salvador represents the primary city of residence for 46.43% of patients. Spinal ALS was present in 78.57% of patients, with initial symptoms occurring more frequently in the upper limbs (60.71%). The most frequently reported symptoms were pain (64.29%), fasciculations (57.14%), and dysphagia (57.14%). Although 57.14% of the population was at stage 4, 75% of the patients did not use any feeding device, and only 35.71% used non-invasive ventilation. Moreover, only 25% of patients underwent gastrostomy, while 3.57% underwent tracheostomy. The functionality score (ALSFR-R), utility value (EQ-5D), and productivity score (WPAI-GH) had a mean value (SD) of 20.39 (9.85), 0.178 (0.211) and 93.21 (14.92), respectively. Conclusion: The ALS profile observed in this study is consistent with that reported in the scientific literature: it shows a male predominance, with greater involvement from the 5th decade of life onwards and an urban setting. Spinal ALS is the main clinical phenotype, and the ethnic profile differed from that presented in the literature due to miscegenation. The population exhibits advanced ALS progression, with significant functional impairment, a wide range of associated symptoms, and a greater dependence on caregivers and family members. Quality of life declines as the disease progresses, but anxiety and depression are the least reported symptoms, suggesting effective psychological coping mechanisms to manage the diseases progression.