{
  "abstract": "Facioscapulohumeral muscular dystrophy (FSHD) is a common inherited muscle disorder (prevalence 5–12/100 000) caused by epigenetic derepression of the normally silenced DUX4 gene.1 It produces progressive weakness of facial, shoulder girdle and later limb muscles, with no current targeted therapy. Myasthenia gravis (MG), in contrast, is an autoimmune neuromuscular junction disorder most often due to antiacetylcholine receptor (AChR) antibodies, causing fatigable weakness that typically affects extraocular, bulbar, respiratory and proximal limb muscles. MG is treatable but requires timely recognition to prevent life-threatening crises and has a UK prevalence of 10–20/100 000.2 Although both conditions are rare, several reports describe their co-occurrence. FSHD is associated with inflammatory changes in skeletal muscle, and DUX4 is expressed in the thymus, an organ central to T cell tolerance.3 This pilot study, therefore, aimed to determine whether MG occurs more frequently in FSHD and to explore whether FSHD may predispose to AChR autoimmunity.",
  "authors": [
    {
      "affiliations": [
        "Centre for Public Health, Queen’s University Belfast, Belfast, UK"
      ],
      "name": "Grace McMacken"
    },
    {
      "affiliations": [
        "Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK"
      ],
      "name": "Mohammad Ashraghi"
    },
    {
      "affiliations": [
        "Centre for Public Health, Queen’s University Belfast, Belfast, UK"
      ],
      "name": "Lucas Keyes"
    },
    {
      "affiliations": [
        "Department of Neurology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK",
        "Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK"
      ],
      "name": "Saiju Jacob"
    },
    {
      "affiliations": [
        "Sheffield Institute for Translational Neurosciences (SITRAN), Institute of Neuroscience, The University of Sheffield, Sheffield, UK",
        "Academic Neuromuscular Unit, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK"
      ],
      "name": "Channa Hewamadduma"
    },
    {
      "affiliations": [
        "Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK"
      ],
      "name": "Caroline Carmichael"
    },
    {
      "affiliations": [
        "Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK",
        "Manchester Centre for Clinical Neuroscience, Salford Royal Hospital, Salford, UK"
      ],
      "name": "Katherine C Dodd"
    },
    {
      "affiliations": [
        "Wessex Neurological Centre, Southampton University Hospitals NHS Trust, Southampton, UK"
      ],
      "name": "Georgina Burke"
    },
    {
      "affiliations": [
        "Neuromuscular Unit, Department of Neurology, Charing Cross Hospital, London, UK"
      ],
      "name": "Stuart Viegas"
    },
    {
      "affiliations": [
        "Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK"
      ],
      "name": "Camilla Buckley"
    },
    {
      "affiliations": [
        "Centre for Public Health, Queen’s University Belfast, Belfast, UK"
      ],
      "name": "Amy Jayne McKnight"
    },
    {
      "affiliations": [
        "Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK"
      ],
      "name": "Maria Farrugia"
    },
    {
      "affiliations": [
        "Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK"
      ],
      "name": "Maria Isabel Leite"
    },
    {
      "affiliations": [
        "Wellcome Wolfson Institute for Experimental Medicine, Queen’s University Belfast, Belfast, UK",
        "Department of Neurology, South Eastern Health and Social Care Trust, Dundonald, UK"
      ],
      "name": "John McConville"
    }
  ],
  "title": "Frequent co-occurrence of AChR-positive myasthenia gravis in facioscapulohumeral muscular dystrophy suggests a novel disease association",
  "uid": "e0de9544-83d7-51ab-a91a-3a54de799529"
}