Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: A case report

Abstract

Introduction: We wish to report on a rare cause of dysphagia; oculopharyngeal muscular dystrophy (OPMD). It is a late adult onset autosomal dominant form of muscular dystrophy that constitutes as a rare diagnosis for any place outside of Canada and first case in southern Germany. Case presentation: We report the medical odyssey of a 57-year old male Caucasian patient. He was referred at our hospital for further clarification of a progressive dysphagia, which, at first view, was thought to be tumor related due to the patient's typical anamnesis. Conclusion: The present report outlines the importance of considering this rare disease for general medicine practitioners as well as head and neck specialists as a differential diagnosis for swallowing disorders with, even at second view, uncertain cause. © 2009 Bumm et al; licensee BioMed Central Ltd.