Characterization of Motor Function and Quality of Life, in Patients With Spinal Muscular Atrophy Treated With Disease-Modifying Therapies.

Motor function, quality of life, and multidisciplinary treatment of patients with spinal muscular atrophy using disease-modifying therapies were evaluated. Assessments were performed according to the patient's functional capacity. Twenty patients were included in the study: 6 nonsitters and 14 sitters. Quality of life was assessed using the Pediatric Quality of Life Inventory 4.0 (PedsQL)-Neuromuscular Module. Low motor function performance and adequate quality of life were identified. Low motor function performance may be related to delayed onset of disease-modifying therapy; however, quality of life is good for a population receiving adequate treatment. Therefore, we conclude that the age at which drug treatment begins influences motor function scores and that adequate drug and multidisciplinary treatment improves the perception of quality of life.