Cricopharyngeal Dilatation for the Long-term Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a rare autosomal dominant, progressive degenerative muscle disorder featuring dysphagia with limited therapeutic options. The aim of this study was to evaluate the safety and efficacy of repeated endoscopic dilatation for OPMD over a 15-year period. All patients seen at our Regional Swallowing Clinic with OPMD confirmed by genetic analysis were included. Cricopharyngeal dilatation was performed as an outpatient procedure using a wire-guided 18-mm (54 Fr) Savary-Gilliard bougie with the patient under sedation. Patients were offered repeat endoscopic dilatation when symptoms recurred. Symptom severity prior to initial dilatation and at follow-up was evaluated using the Sydney Swallow Questionnaire (SSQ). Nine patients (7 female, 2 male) were included for analysis. Median total treatment period was 13 years (range = 3-15), median number of dilatations per patient was 7.2 (range = 1-16), and median interval between treatments was 15 months (range = 4.5-45). All patients recorded sustained symptom improvement. Mean SSQ score (out of 1,700) was 1,108.11 (SD ± 272.85) prior to first dilatation and 297.78 (SD ± 189.14) at last follow-up, representing a 73% decrease (95% CI = 52-94) in degree of dysphagia symptoms (paired t-test, P = 0.0001). All mean scores for individual questions also showed significant improvement (P < 0.05). No adverse events were reported with all patients maintaining oral feeding at last follow-up. Repeated cricopharyngeal dilatation is a safe, effective, well-tolerated, and long-lasting treatment for dysphagia in OPMD.

Psychometric Properties of Questionnaires on Functional Health Status in Oropharyngeal Dysphagia: A Systematic Literature Review

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Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy

“…Because UES opening is the target of these interventions, these procedures do not impact other mechanisms that contribute to oropharyngeal dysphagia including impaired lingual propulsion, pharyngeal contraction and laryngeal vestibule closure . As a result, current interventions are reported to yield disappointing functional improvements in oropharyngeal swallowing with percutaneous endoscopic gastronomy (PEG) tubes recommended for means of alternative nutrition in end stages of disease as swallow function progressively declines . This is particularly impactful as severity of dysphagia is associated with pulmonary sequelae and exacerbated disease prognosis…”

Dysphagia‐related quality of life in oculopharyngeal muscular dystrophy: Psychometric properties of the SWAL‐QOL instrument

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