Abstract
Objective: Oculopharyngeal muscular dystrophy (OPMD) is a rare, autosomal dominant, progressive degenerative muscle disorder featuring dysphagia with limited therapeutic options. Cricopharyngeal myotomy improves symptoms, yet dysphagia frequently recurs, failing to prevent aspiration and enteral feeding. The objective is to evaluate safety and efficacy of repeated endoscopic dilatation for OPMD over a 15-year period.
Method: All patients at our unit with genetically confirmed OPMD were included. Cricopharyngeal dilatation was performed with a wire-guided 18 mm Savary-Gilliard bougie. Repeat dilatation was offered when symptoms recurred. Symptom severity prior to initial dilatation and at follow-up was evaluated using the Sydney Swallow Questionnaire (SSQ).
Results: Nine patients (7 female, 2 male) were included. Median total treatment period was 13 years (range, 3-15 years), median number of dilatations per patient was 7.2 (1-16), and median interval between treatments was 15 months (range, 4.5-45 months). All patients recorded sustained symptom improvement. Mean SSQ score was 1108 out of 1700 (SD ± 272.9) prior to first dilatation and 298 out of 1700 (SD ± 189.1) at last follow-up, representing a 73% decrease (95% CI 52-94) in degree of dysphagia symptoms (Paired t test, P = .0001). All mean scores for individual questions also showed significant improvement (P < .05). No adverse events were reported with all patients maintaining oral feeding at last follow-up.
Conclusion: Repeated cricopharyngeal dilatation is a safe, effective, well-tolerated, and long-lasting treatment for dysphagia in OPMD.
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