Quality of life and fatigue in adults with spinal muscular atrophy

<h3>Background</h3> Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease in which quality of life and fatigue are prominent but understudied symptoms in adult patients. <h3>Objective</h3> To retrospectively evaluate quality of life and fatigue in a cohort of adult SMA patients at a tertiary centre for neuromuscular disease. <h3>Methodology</h3> Quality of life and fatigue were assessed using QoL-NMD and FACIT-fatigue patient reported outcome measures. Self-assessed QoL-NMD and FACIT scores were collected from patients attending follow-up at the Muscle Disease Unit, Manchester Centre for Clinical Neurosciences between January 2021 and January 2024. <h3>Results</h3> Serial QoL-NMD and FACIT scores were collected for 40 patients. Mean baseline QoL-NMD score was higher in SMA type II (46.9, SD 11.5) than SMA type III (37.5, SD 15.3), however over follow-up there was greater mean improvement in SMA type III (+7.8, SD 13.6) than type II (-0.9, SD 8.5). Baseline fatigue demonstrated less heterogeneity between SMA type and mobility status than quality of life. Fatigue improved to a greater extent in the previously ambulant group compared to never or currently ambulant groups over follow-up. <h3>Conclusions</h3> Findings demonstrate that drivers of patient reported quality of life are more wide-ranging than simply the severity of their SMA.