{
  "abstract": "Pompe disease is a genetic condition that results in glycogen accumulation in tissues, presenting from early infancy to late adulthood with various neurological and non-neurological features. We describe a woman in her late 70s with a slowly progressive onset (over years) of ptosis, oropharyngeal dysphagia and dysarthria, who was found to have late-onset Pompe disease. This case illustrates an atypical phenotype of late-onset Pompe disease that closely mimicked oculopharyngeal muscular dystrophy. Pompe disease is relatively easily identified using dried blood spot testing as a screening test. Enzyme replacement therapy for Pompe disease has increased the importance of its timely diagnosis, and recognising the variability in its presentation.",
  "authors": [
    {
      "affiliations": [
        "Neurology, McMaster University Division of Neurology, Hamilton, Ontario, Canada"
      ],
      "name": "Moiz Mikail"
    },
    {
      "affiliations": [
        "Neurology, McMaster University Division of Neurology, Hamilton, Ontario, Canada"
      ],
      "name": "Matthew Gladman"
    }
  ],
  "title": "Late-onset Pompe disease mimicking oculopharyngeal muscular dystrophy",
  "uid": "cdec27b3-8155-5e7a-8c6c-aba39be7e4cc"
}