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Letter
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
  1. Ursula R Moore1,
  2. Marni Jacobs2,3,
  3. Roberto Fernandez-Torron1,4,
  4. Jiji Jang2,3,
  5. Meredith K James1,
  6. Anna Mayhew1,
  7. Laura Rufibach5,
  8. Plavi Mittal5,
  9. Michelle Eagle1,
  10. Avital Cnaan3,6,
  11. Pierre G Carlier7,
  12. Andrew Blamire8,
  13. Heather Hilsden1,
  14. Hanns Lochmüller1,
  15. Ulrike Grieben9,
  16. Simone Spuler9,
  17. Carolina Tesi Rocha10,
  18. John W Day10,
  19. Kristi J Jones11,
  20. Diana X Bharucha-Goebel12,13,
  21. Emmanuelle Salort-Campana14,
  22. Matthew Harms15,
  23. Alan Pestronk15,
  24. Sabine Krause16,
  25. Olivia Schreiber-Katz16,
  26. Maggie C Walter16,
  27. Carmen Paradas17,
  28. Jean-Yves Hogrel18,
  29. Tanya Stojkovic18,
  30. Shin’ichi Takeda19,
  31. Madoka Mori-Yoshimura19,
  32. Elena Bravver20,
  33. Susan Sparks20,
  34. Jordi Diaz-Manera21,22,
  35. Luca Bello23,
  36. Claudio Semplicini23,
  37. Elena Pegoraro23,
  38. Jerry R Mendell24,
  39. Kate Bushby1,
  40. Volker Straub1
  1. 1 The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle upon Tyne, UK
  2. 2 Children’s Research Institute, Division of Biostatistics and Study Methodology, Children’s National Health System, Washington, District of Columbia, USA
  3. 3 Department of Pediatrics, Epidemiology and Biostatistics, George Washington University, Washington, District of Columbia, USA
  4. 4 Neuromuscular Area, Biodonostia Health Research Institute, Neurology Service, Donostia University Hospital, Donostia-San Sebastian, Spain
  5. 5 The Jain Foundation, Seattle, Washington, USA
  6. 6 Children’s Research Institute, Division of Biostatistics and Study Methodology, Children’s National Health System, Washington, District of Columbia, USA
  7. 7 AIM and CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France
  8. 8 Magnetic Resonance Centre, Institute for Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK
  9. 9 Charite Muscle Research Unit, Experimental and Clinical Research Center, The Max Delbrück Center for Molecular Medicine, Berlin, Germany
  10. 10 Department of Neurology and Neurological Sciences, School of Medicine, Stanford University, Stanford, California, USA
  11. 11 Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia
  12. 12 Department of Neurology, Children’s National Health System, Washington, District of Columbia, USA
  13. 13 National Institutes of Health (NINDS), Bethesda, Maryland, USA
  14. 14 Department of Neuromuscular and ALS Center, La Timone Hospital, Aix-Marseille Université, Marseille, France
  15. 15 Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA
  16. 16 Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany
  17. 17 Neuromuscular Unit, Hospital Universitario Virgen del Rocío/Instituto de Biomedicina de Sevilla, Sevilla, Spain
  18. 18 Institut de Myologie, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Boulevard de l’Hôpital, Paris, France
  19. 19 Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
  20. 20 Carolinas Healthcare System Neurosciences Institute, Charlotte, North Carolina, USA
  21. 21 Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain
  22. 22 Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
  23. 23 Department of Neuroscience, University of Padova, Padova, Italy
  24. 24 Nationwide Children’s Hospital, Columbus, Ohio, USA
  1. Correspondence to Professor Volker Straub, The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ, UK; volker.straub{at}ncl.ac.uk

https://doi.org/10.1136/jnnp-2017-317329

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    Introduction

    Dysferlinopathy, an autosomal recessive muscular dystrophy caused by DYSF mutations, demonstrates a variable phenotype and progression rate, with symptom onset ranging from first to eighth decade and some patients requiring wheelchairs for mobility within 10 years, with others remaining minimally affected.1

    Dysferlinopathy populations have previously been described as having an unusually high level of presymptomatic sporting ability.2 We hypothesised that this activity could be related to subsequent disease progression and investigated the hypothesis using data from the Jain Foundation’s Clinical Outcomes Study (COS) of 202 patients with dysferlinopathy.1

    Methods

    Data were used from 182 of the 202 patients enrolled in the Jain COS; 10 dropped out and did not give permission to use their data and 10 did not fully complete the exercise questionnaire.

    The questionnaire used in the screening visits (online supplementary information) between 6 November 2012 and 19 March 2015 asked about the type, level and frequency of all physical activity prior to symptom onset. Self-reported age of first symptoms, first wheelchair use and full-time wheelchair use was taken from screening questionnaires.

    Exercises were classified based on metabolic equivalents (METs) as moderate (MET 3–6) or vigorous (MET >6) (online supplementary table 1).3 Participants were coded, based on the maximum frequency of activity reported between ages 10 and 18 years, as 0—no physical activity; 1—vigorous activity occasionally/monthly, or moderate activity once weekly; 2— moderate activity multiple times per week or vigorous activity once weekly; and 3—vigorous activity multiple times per week.

    Supplementary file 1

    [SP1.pdf]

    Statistical analysis

    Age of symptom onset was compared by analysis of variance (ANOVA) with least squares means for individual group differences. Risk of symptom onset, occasional wheelchair use and full-time wheelchair requirement over time were compared for exercise groups 1, 2 and 3 against group 0 using Cox proportional hazards regression. Proportional hazards assumption was violated …

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