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Peer-reviewedCC BY 4.0Cureus

Progressive Dysphagia Revealing Oculopharyngeal Muscular Dystrophy: A Diagnostic Challenge

  • Stuti Dalal1
  • Jenny Jan2
  • Katarina Greer3
  1. 1Internal Medicine, Case Western Reserve University, Cleveland, USA
  2. 2Gastroenterology, Cone Health LeBauer Gastroenterology, Greensboro, USA
  3. 3Gastroenterology, Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, USA
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Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset myopathy often presenting with progressive dysphagia and delayed diagnosis. We report a 69-year-old woman with worsening dysphagia, ptosis, and proximal muscle weakness who underwent an unrevealing gastrointestinal evaluation, including upper endoscopy. Videofluoroscopic swallow evaluation (VFSE) demonstrated pharyngeal dysphagia. A strong family history prompted genetic testing, confirming a poly(A) binding protein nuclear 1 (PABPN1) trinucleotide repeat expansion consistent with autosomal dominant OPMD.

This case highlights the importance of recognizing neuromuscular causes of dysphagia, particularly when structural evaluations are negative. Early identification can reduce diagnostic delay and allow appropriate supportive management, improving quality of life and reducing complications.

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Cite

BibTeXRIS
BibTeX
@article{dalal2026progressive,
  title = {{Progressive Dysphagia Revealing Oculopharyngeal Muscular Dystrophy: A Diagnostic Challenge}},
  author = {Stuti Dalal and Jenny Jan and Katarina Greer},
  journal = {Cureus},
  year = {2026},
  month = oct,
  doi = {10.7759/cureus.117576},
  url = {https://doi.org/10.7759/cureus.117576},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Progressive Dysphagia Revealing Oculopharyngeal Muscular Dystrophy: A Diagnostic Challenge
AU  - Stuti Dalal
AU  - Jenny Jan
AU  - Katarina Greer
PY  - 2026
DA  - 2026/10/07
JO  - Cureus
DO  - 10.7759/cureus.117576
UR  - https://doi.org/10.7759/cureus.117576
AB  - Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset myopathy often presenting with progressive dysphagia and delayed diagnosis. We report a 69-year-old woman with worsening dysphagia, ptosis, and proximal muscle weakness who underwent an unrevealing gastrointestinal evaluation, including upper endoscopy. Videofluoroscopic swallow evaluation (VFSE) demonstrated pharyngeal dysphagia. A strong family history prompted genetic testing, confirming a poly(A) binding protein nuclear 1 (PABPN1) trinucleotide repeat expansion consistent with autosomal dominant OPMD.  This case highlights the importance of recognizing neuromuscular causes of dysphagia, particularly when structural evaluations are negative. Early identification can reduce diagnostic delay and allow appropriate supportive management, improving quality of life and reducing complications.
SN  - 2168-8184
ER  -