Year: 2026
Type: article
Study design: Case Report
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.
Source: Cureus
Authors: Stuti Dalal, Jenny Jan, Katarina Greer
Language: English
Subfield: Speech and Hearing
Field: Health Professions
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7220841230