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.