Case Report
Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report
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* Corresponding author: Klaus Bumm klaus.bumm@uk-erlangen.de
1 Department of Otorhinolaryngology-Head and Neck Surgery, University of Erlangen-Nuremberg, Germany
2 Institute of Human Genetics, University of Erlangen-Nuremberg, Germany
Cases Journal 2009, 2:94 doi:10.1186/1757-1626-2-94
Published: 28 January 2009Abstract
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.