Dysphagia and its impact on quality of life in rare neuromuscular disorders

Abstract

Background Patients with neuromuscular diseases (NMDs) often face swallowing difficulties (dysphagia) as part of their condition. Objective To determine the prevalence of self-reported swallowing disorders in patients with rare NMDs and examine their correlation with related quality of life (QoL). Methods The study included 103 patients with confirmed rare NMDs. Dysphagia risk was assessed using the validated Eating Assessment Tool-10 (EAT-10), and QoL related to swallowing was measured with the SWAL-QoL survey. Correlations between EAT-10 and SWAL-QoL scores were analyzed. Additionally, the mean questionnaire scores were compared among patients classified as dysphagic, dysphagic with high aspiration risk, and nondysphagic. Results The estimated prevalence of dysphagia in the cohort, based on EAT-10, was 52.4%. Higher scores were significantly correlated with poorer swallowing-related QoL, except for the sleep domain. The most affected SWAL-QoL domains were burden, eating desire, eating duration, food selection, communication, fear, mental health, social functioning, and dysphagia battery score (DBS), with significant differences observed among the classifications (p < 0.001 for most domains, and p = 0.015 for eating desire). No statistically significant difference in swallowing QoL was found between sitters and walkers. Conclusion Dysphagia is a prevalent symptom in patients with rare NMDs, affecting 52.4% of the cohort and significantly impacting QoL in nearly all domains except sleep.