{
  "abstract": "Background Becker muscular dystrophy (BMD) is a rare X-linked neuromuscular disorder predominantly affecting males. While respiratory function has been characterised in small cohorts over limited time frames, comprehensive long-term longitudinal data remain lacking, as do established care guidelines to inform respiratory surveillance in BMD.Methods In this retrospective analysis, we present a large longitudinal analysis of respiratory function in patients with BMD, based on 1360 spirometry measurements from a single-centre cohort of 152 patients. Analysed assessments spanned paediatric to adult ages (3.4–86.3 years), with a mean follow-up duration of 11 years per patient.Linear mixed-effects models were used to study longitudinal changes in respiratory function.Results Respiratory decline in BMD appears gradual and variable, typically not affecting children (<18 years of age).Respiratory support was infrequent (11.2%), always non-invasive and limited to nocturnal use.Loss of ambulation emerged as a strong predictor of faster decline in forced vital capacity percentage of predicted (FVC%) (estimate −0.58%/year, p=0.002), with the requirement for assistive walking devices marking a critical transitional stage.Upper limb function, assessed via the PUL 2.0 entry item, correlated significantly with FVC%, particularly among non-ambulant patients (rho=0.60, p=0.02). Cardiac involvement showed a limited effect on respiratory function, likely driven by patients with more advanced cardiomyopathy.No consistent genotype-phenotype correlations were observed.Conclusion These findings provide important evidence to inform clinical management, supporting the recommendation of individualised respiratory monitoring strategies and contributing to the design and interpretation of clinical trials in BMD.",
  "authors": [
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK",
        "Department of Neurosciences DNS, Universita degli Studi di Padova, Padua, Italy"
      ],
      "name": "Pietro Riguzzi"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Emma Grover"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Marianela Schiava"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Meredith K James"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Jordi Diaz-Manera"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Giorgio Tasca"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "John Bourke"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Holly Borland"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Dionne Moat"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Maha Elseed"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Jassi Michell-Sodhi"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Carla Bolaño-Díaz"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Karen Wong"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Ariele Barreto Haagsma"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Emma Robinson"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Tara Reeves"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Peter Waldock"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Elizabeth Harris"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Michelle McCallum"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK",
        "Department of Neuroscience \"Rita Levi Montalcini”, University of Turin, Torino, Italy"
      ],
      "name": "Giulio Gadaleta"
    },
    {
      "affiliations": [
        "Department of Neurosciences DNS, Universita degli Studi di Padova, Padua, Italy"
      ],
      "name": "Elena Pegoraro"
    },
    {
      "affiliations": [
        "Department of Neurosciences DNS, Universita degli Studi di Padova, Padua, Italy"
      ],
      "name": "Luca Bello"
    },
    {
      "affiliations": [
        "North East Assisted Ventilation Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"
      ],
      "name": "Ben Messer"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Robert Muni-Lofra"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Volker Straub"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Chiara Marini Bettolo"
    },
    {
      "affiliations": [
        "Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK"
      ],
      "name": "Michela Guglieri"
    }
  ],
  "title": "Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study",
  "uid": "dc75da04-3f25-5ec3-9acb-49bbfa073d0e"
}