Abstract
IntroductionWe 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 presentationWe 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.ConclusionThe 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.
Highlights
We wish to report on a rare cause of dysphagia; oculopharyngeal muscular dystrophy (OPMD)
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
A 57-year old Caucasian male patient with acute pneumonia and a progressive dysphagia was referred to our department
Summary
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. A 57-year old Caucasian male patient with acute pneumonia and a progressive dysphagia was referred to our department. He reported episodes of painless swallowing difficulties, associated with xerostomia, hoarseness and an uncomfortable sensation of a mass in the upper esophagus. The patient reported daily alcohol and nicotine abuse over a period of 40 years On physical examination he showed a distinct bilateral eyelid ptosis combined with a mild facial weakness. Video-radiological barium examination revealed intra- and- postdeglutive aspiration (Figure 1). One 69 year old brother (marked by a question mark) of the index patient was reported to have only mild dysphagia without eyelid ptosis which may reflect mild expression of the disease or even chance association. The affection status of the paternal grandmother (marked by a question mark) is unclear because she died already at the age of 36 years
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
