Oculopharyngeal Muscular Dystrophy: a Case Report
Keywords:
oculopharyngeal muscular dystrophy, dysphagia, swallowing dysfunction, rehabilitationAbstract
Objectives: To report rehabilitation management of oculopharyngeal muscular dystrophy (OPMD).
Study design: Case report.
Setting: Department of Rehabilitation Medicine, Maharat Nakhon Ratchasima Hospital.
Subject: A 72-year-old male who presented with progressive bilateral ptosis, hoarseness and swallowing difficulty, dysphagia.
Methods: Patient’s medical records from 1st January 2018 to 31th December 2019 were reviewed and swallowing dysfunction was assessed by physical examination, a modified water swallow test and videofluoroscopy.
Results: Abnormal swallowing was found in the pharyngeal stage with decrease in laryngeal elevation and pharyngeal constriction. Penetration was seen after drinking a cup of water. OPMD was clinically diagnosed. Genetic confirmation of mutation in the PABPN1 gene was made. Nutritional assessment was performed. Swallowing rehabilitation program consisted of Shaker exercise and Mendelsohn maneuver to increase hyolaryngeal excursion, chin tuck for compensatory strategy and modified diet. The patient was discharged without complication. The swallowing program was continued and he was able to swallow safely.
Conclusion: OPMD is a rare disease causing dysphagia. Extensive family history-taking and physical examination leaded to diagnosis. Currently, there is no definite treatment for OPMD but proper swallowing rehabilitation management could improve swallowing dysfunction and improve patient’s quality of life.
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