Associação entre o tratamento farmacológico com a funcionalidade em indivíduos com atrofia muscular espinhal (AME) tipo 1, 2 e 3 - estudo longitudinal retrospectivo

Abstract

INTRODUCTION: Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder. The primary implication of this disease is the progressive weakness of respiratory and skeletal muscles. SMA is classified based on the age of symptom onset and presents with 5 phenotypes. The lower the type of SMA, the more severe the disease. The main drugs used in SMA treatment are nusinersen, risdiplam, and zolgensma. Functional assessment is carried out using functional scales, including Chop Intend and HFMSE. OBJECTIVES: To assess the association between the number of doses received in pharmacological treatment and functionality, as measured by the Chop Intend and HFMSE functional scales in individuals with SMA types 1, 2, and 3. METHODOLOGY: A retrospective longitudinal study. Patients diagnosed with SMA under follow-up at the Neuromuscular Diseases Outpatient Clinic of Onofre Lopes University Hospital (HUOL) were invited to participate in the study. Motor evaluation was performed using the Chop Intend and HFMSE scales before drug administration. RESULTS: Forty-seven individuals with SMA were evaluated. Pharmacological treatment led to improvements in the Chop Intend scale, indicating an increase in the score for SMA type 2 compared to SMA type 1. Similarly, in the HFMSE scale, a more notable improvement in the score was observed for SMA type 3 compared to SMA type 2. CONCLUSION: Pharmacological treatment is directly associated with improved functionality in patients with SMA types 1, 2, and 3, as reflected in the scores on the Chop Intend and HFMSE scales.