{
  "abstract": "Duchenne Muscular Dystrophy (DMD) is a progressive, debilitating and fatal neuromuscular disorder caused by variants in the DMD gene. Transitioning from paediatric to adult care often disrupts holistic support and leave adult patients underserved. This project evaluated adult DMD care in Wales by benchmarking against the 2021 Adult North Star Network guidelines.Data was collected retrospectively between June 2023–July 2024 from neuromuscular centres across Wales. Total of 56 patients aged ≥14 years were included. Results were scrutinised by stakeholders, neuromuscular team members, neurologists, public health experts and service user representatives.Findings show strengths in access to respiratory (88%) and physiotherapy care (85%), except in North Wales. Psychological support was identified as a critical unmet need across all regions, with 62% lacking access. Region specific top challenges include limited respite care in South/Southeast Wales (84% without access), insufficient cardiology follow-up in West Wales (42% require follow up), and the absence of clinical care coordination in North Wales (100%).These findings highlight critical regional disparities in adult Welsh DMD care and emphasize the need for targeted improvements in psychological, cardiac, and coordinated clinical services. Strengthening the care pathways in these areas is vital for achieving equity for DMD patients in Wales.aungminsaw@gmail.com",
  "authors": [
    {
      "affiliations": [
        "Department of Neurology, Cardiff and Vale University Health Board"
      ],
      "name": "Saw Aung"
    },
    {
      "affiliations": [
        "Centre for Spinal and Neuro Rehabilitation, University Hospital Llandough"
      ],
      "name": "Salmon Rachel"
    },
    {
      "affiliations": [
        "Rare Diseases Implementation Network, NHS UK"
      ],
      "name": "Edwards Rhiannon"
    },
    {
      "affiliations": [
        "Centre for Spinal and Neuro Rehabilitation, University Hospital Llandough"
      ],
      "name": "Fletcher Claire"
    },
    {
      "affiliations": [
        "Centre for Spinal and Neuro Rehabilitation, University Hospital Llandough"
      ],
      "name": "Davies Elizabeth"
    },
    {
      "affiliations": [
        "Centre for Spinal and Neuro Rehabilitation, University Hospital Llandough"
      ],
      "name": "Davis Hayley"
    },
    {
      "affiliations": [
        "Department of Neurology, Swansea Bay University Health Board"
      ],
      "name": "Skone Kate"
    },
    {
      "affiliations": [
        "Neurology Services Department, Betsi Cadwaladar University Health Board"
      ],
      "name": "Roberts Veronica"
    },
    {
      "affiliations": [
        "Department of Neurology, Cardiff and Vale University Health Board"
      ],
      "name": "Marsh Eleanor"
    },
    {
      "affiliations": [
        "Clinical Lead, National Strategic Clinical Network for Neurological Conditions, NHS UK"
      ],
      "name": "Powell Robert"
    },
    {
      "affiliations": [
        "Department of Neurology, Swansea Bay University Health Board"
      ],
      "name": "Heledd Tomos"
    },
    {
      "affiliations": [
        "Department of Neurology, Swansea Bay University Health Board"
      ],
      "name": "Donna Richards"
    },
    {
      "affiliations": [
        "Department of Neurology, Swansea Bay University Health Board"
      ],
      "name": "Fiona Davies"
    },
    {
      "affiliations": [
        "Department of Neurology, Swansea Bay University Health Board"
      ],
      "name": "Kate Greenfield"
    },
    {
      "affiliations": [
        "Department of Neurology, Swansea Bay University Health Board"
      ],
      "name": "Georgina Carey"
    }
  ],
  "title": "33 Insights into current adult duchenne muscular dystrophy (DMD) care in wales",
  "uid": "341f4fda-821e-562f-a140-4021455a075b"
}