Not Just Another Aspiration Pneumonia: Oculopharyngeal Muscular Dystrophy

Simant Singh Thapa, Abhijai Singh, Jeffrey Scott, Anthony Izzo


Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic myopathy of adulthood onset which presents as late-onset ptosis, dysphagia and family history of ptosis and dysphagia. It occurs due to the poly(A) binding nuclear protein 1 (PABPN1) gene mutation. A 75-year-old male presented with complaints of fever, cough and worsening dysphagia. His father and paternal grandfather both had a history of ptosis and dysphagia. He was febrile, tachypneic and bilateral ptosis was noticed. The chest CT revealed consolidation. A modified barium swallow showed frank tracheal aspiration. An acetylcholine receptor antibody test was negative. An electromyogram and nerve conduction study revealed a generalized myopathic process with the absence of myotonia. With a history of adult-onset bilateral ptosis and progressive dysphagia along with the positive family history of ptosis and dysphagia, there was a strong suspicion for OPMD. Genetic testing was performed, which was positive as it detected GCG expansion in the PABPN1 gene, which is associated with OPMD and thus the diagnosis of OPMD was established. Malnutrition and recurrent aspiration are potential and harmful complications that reduce the life expectancy of these patients.

J Med Cases. 2017;8(12):378-380


Hereditary ptosis; Progressive dysphagia; OPMD

Full Text: HTML PDF

Browse  Journals  


Journal of clinical Medicine Research

Journal of Endocrinology and Metabolism

Journal of Clinical Gynecology and Obstetrics

World Journal of Oncology

Gastroenterology Research

Journal of Hematology

Journal of Medical Cases

Journal of Current Surgery

Clinical Infection and Immunity

Cardiology Research

World Journal of Nephrology and Urology

Cellular and Molecular Medicine Research

Journal of Neurology Research

International Journal of Clinical Pediatrics






Journal of Medical Cases, monthly, ISSN 1923-4155 (print), 1923-4163 (online), published by Elmer Press Inc.            
The content of this site is intended for health care professionals.
This is an open-access journal distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, which permits unrestricted
non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Creative Commons Attribution license (Attribution-NonCommercial 4.0 International CC-BY-NC 4.0)

This journal follows the International Committee of Medical Journal Editors (ICMJE) recommendations for manuscripts submitted to biomedical journals,
the Committee on Publication Ethics (COPE) guidelines, and the Principles of Transparency and Best Practice in Scholarly Publishing.

website:   editorial contact:
Address: 9225 Leslie Street, Suite 201, Richmond Hill, Ontario, L4B 3H6, Canada

© Elmer Press Inc. All Rights Reserved.