Klaus Bumm1, Martin Zenker, Alessandro Bozzato. 1. Department of Otorhinolaryngology-Head and Neck Surgery, University of Erlangen-Nuremberg, Germany. klaus.bumm@uk-erlangen.de.
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.
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.
Authors: Sarah Werling; Bertold Schrank; Alexander J Eckardt; Anja Hauburger; Marcus Deschauer; Michaela Müller Journal: Ann Gastroenterol Date: 2015 Apr-Jun