{
  "abstract": "Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset disorder caused by pathogenic expansions in the PABPN1 (poly(A)-binding protein nuclear 1) gene. It is characterised by progressive ptosis, dysphagia and proximal limb weakness. Due to the rarity of OPMD, patient care in general hospitals may be compromised by limited expertise, particularly during ocular, pharyngeal or gastrointestinal procedures. This can cause unnecessary complications which may be life-threatening. Here we provide a concise overview of the symptoms and signs, diagnostic investigations, counselling and symptomatic management of OPMD. We aim to contribute to the development of a tailored, multisystem approach to patient management across all care settings. We hope to improve awareness of OPMD and to improve healthcare for patients with this condition.",
  "authors": [
    {
      "affiliations": [
        "Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands"
      ],
      "name": "Wesley Reintjes"
    },
    {
      "affiliations": [
        "Department of Rehabilitation, Radboud University Medical Centre, Nijmegen, the Netherlands"
      ],
      "name": "Simone Knuijt"
    },
    {
      "affiliations": [
        "Department of Medicine, Neurology, The Ottawa Hospital, Ottawa, Ontario, Canada"
      ],
      "name": "Fien Oelbrandt"
    },
    {
      "affiliations": [
        "OPMD Association, San Antonio, Texas, USA"
      ],
      "name": "Rebecca N Hastings"
    },
    {
      "affiliations": [
        "Functional Unit of Neuromuscular Pathology, Department of Neuropathology, Myology Institute, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Sorbonne University, Paris, France"
      ],
      "name": "Teresinha Evangelista"
    },
    {
      "affiliations": [
        "John Walton Muscular Dystrophy Research Centre, Faculty of Medical Sciences, Newcastle University",
        "Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK",
        "NIHR Newcastle Biomedical Research Centre (BRC), Newcastle upon Tyne, UK"
      ],
      "name": "Giorgio Tasca"
    },
    {
      "affiliations": [
        "Department of Medicine, Neurology, The Ottawa Hospital, Ottawa, Ontario, Canada",
        "Medical Genetics, CHEO, Ottawa, Ontario, Canada"
      ],
      "name": "Jodi Warman Chardon"
    },
    {
      "affiliations": [
        "Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands"
      ],
      "name": "Nicol Voermans"
    }
  ],
  "title": "Oculopharyngeal muscular dystrophy: diagnosis, management and multisystem care",
  "uid": "872e9098-594c-55d7-bedc-b95a3bef4dcb"
}