Natural history of pulmonary function in collagen VI-related myopathies
Identifieur interne : 001816 ( Pmc/Corpus ); précédent : 001815; suivant : 001817Natural history of pulmonary function in collagen VI-related myopathies
Auteurs : A. Reghan Foley ; Susana Quijano-Roy ; James Collins ; Volker Straub ; Michelle Mccallum ; Nicolas Deconinck ; Eugenio Mercuri ; Marika Pane ; Adele D Mico ; Enrico Bertini ; Kathryn North ; Monique M. Ryan ; Pascale Richard ; Valérie Allamand ; Debbie Hicks ; Shireen Lamandé ; Ying Hu ; Francesca Gualandi ; Sungyoung Auh ; Francesco Muntoni ; Carsten G. BönnemannSource :
- Brain [ 0006-8950 ] ; 2013.
Abstract
The spectrum of clinical phenotypes associated with a deficiency or dysfunction of collagen VI in the extracellular matrix of muscle are collectively termed ‘collagen VI-related myopathies’ and include Ullrich congenital muscular dystrophy, Bethlem myopathy and intermediate phenotypes. To further define the clinical course of these variants, we studied the natural history of pulmonary function in correlation to motor abilities in the collagen VI-related myopathies by analysing longitudinal forced vital capacity data in a large international cohort. Retrospective chart reviews of genetically and/or pathologically confirmed collagen VI-related myopathy patients were performed at 10 neuromuscular centres: USA (
Url:
DOI: 10.1093/brain/awt284
PubMed: 24271325
PubMed Central: 3859224
Links to Exploration step
PMC:3859224Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Natural history of pulmonary function in collagen VI-related myopathies</title><author><name sortKey="Foley, A Reghan" sort="Foley, A Reghan" uniqKey="Foley A" first="A. Reghan" last="Foley">A. Reghan Foley</name><affiliation><nlm:aff id="awt284-AFF1">1 Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Quijano Roy, Susana" sort="Quijano Roy, Susana" uniqKey="Quijano Roy S" first="Susana" last="Quijano-Roy">Susana Quijano-Roy</name><affiliation><nlm:aff id="awt284-AFF2">2 Garches Neuromuscular Centre (GNMH), Raymond Poincaré University Hospital (UVSQ), Garches, 92380, France</nlm:aff></affiliation></author><author><name sortKey="Collins, James" sort="Collins, James" uniqKey="Collins J" first="James" last="Collins">James Collins</name><affiliation><nlm:aff id="awt284-AFF3">3 Neurology Division, Cincinnati Children’s Hospital Medical Centre, Cincinnati, Ohio, 45229, USA</nlm:aff></affiliation></author><author><name sortKey="Straub, Volker" sort="Straub, Volker" uniqKey="Straub V" first="Volker" last="Straub">Volker Straub</name><affiliation><nlm:aff id="awt284-AFF4">4 Institute of Genetic Medicine, International Centre for Life, University of Newcastle, NE1 3BZ, UK</nlm:aff></affiliation></author><author><name sortKey="Mccallum, Michelle" sort="Mccallum, Michelle" uniqKey="Mccallum M" first="Michelle" last="Mccallum">Michelle Mccallum</name><affiliation><nlm:aff id="awt284-AFF4">4 Institute of Genetic Medicine, International Centre for Life, University of Newcastle, NE1 3BZ, UK</nlm:aff></affiliation></author><author><name sortKey="Deconinck, Nicolas" sort="Deconinck, Nicolas" uniqKey="Deconinck N" first="Nicolas" last="Deconinck">Nicolas Deconinck</name><affiliation><nlm:aff id="awt284-AFF5">5 Department of Neurology, Queen Fabiola University Children’s Hospital, Free University of Brussels, ULB, Brussels, B-1000, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awt284-AFF6">6 Neuromuscular Reference Centre, Ghent University Hospital, Ghent, B-9000, Belgium</nlm:aff></affiliation></author><author><name sortKey="Mercuri, Eugenio" sort="Mercuri, Eugenio" uniqKey="Mercuri E" first="Eugenio" last="Mercuri">Eugenio Mercuri</name><affiliation><nlm:aff id="awt284-AFF7">7 Department of Paediatric Neurology, Catholic University, Rome, 00168, Italy</nlm:aff></affiliation></author><author><name sortKey="Pane, Marika" sort="Pane, Marika" uniqKey="Pane M" first="Marika" last="Pane">Marika Pane</name><affiliation><nlm:aff id="awt284-AFF7">7 Department of Paediatric Neurology, Catholic University, Rome, 00168, Italy</nlm:aff></affiliation></author><author><name sortKey="D Mico, Adele" sort="D Mico, Adele" uniqKey="D Mico A" first="Adele" last="D Mico">Adele D Mico</name><affiliation><nlm:aff id="awt284-AFF8">8 Laboratory of Molecular Medicine, Bambino Gesù Children’s Hospital, Rome, 00165, Italy</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="awt284-AFF8">8 Laboratory of Molecular Medicine, Bambino Gesù Children’s Hospital, Rome, 00165, Italy</nlm:aff></affiliation></author><author><name sortKey="North, Kathryn" sort="North, Kathryn" uniqKey="North K" first="Kathryn" last="North">Kathryn North</name><affiliation><nlm:aff id="awt284-AFF9">9 Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, University of Sydney, Westmead, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Ryan, Monique M" sort="Ryan, Monique M" uniqKey="Ryan M" first="Monique M." last="Ryan">Monique M. Ryan</name><affiliation><nlm:aff id="awt284-AFF10">10 Department of Neurology, Royal Children’s Hospital, Murdoch Childrens Research Institute, University of Melbourne, Parkville, VIC 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Richard, Pascale" sort="Richard, Pascale" uniqKey="Richard P" first="Pascale" last="Richard">Pascale Richard</name><affiliation><nlm:aff id="awt284-AFF11">11 AP-HP, Pitié-Salpêtrière Hospital Group, Cardiogenetics and Myogenetics Functional Unit, Metabolic Biochemistry Division, Paris, 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="awt284-AFF12">12 UPMC University of Paris 06, IFR14, Institute of Myology, Paris, 75013, France</nlm:aff></affiliation></author><author><name sortKey="Allamand, Valerie" sort="Allamand, Valerie" uniqKey="Allamand V" first="Valérie" last="Allamand">Valérie Allamand</name><affiliation><nlm:aff id="awt284-AFF12">12 UPMC University of Paris 06, IFR14, Institute of Myology, Paris, 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="awt284-AFF13">13 CNRS, UMR7215, Paris, 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="awt284-AFF14">14 Inserm, U974, Paris, 75013, France</nlm:aff></affiliation></author><author><name sortKey="Hicks, Debbie" sort="Hicks, Debbie" uniqKey="Hicks D" first="Debbie" last="Hicks">Debbie Hicks</name><affiliation><nlm:aff id="awt284-AFF4">4 Institute of Genetic Medicine, International Centre for Life, University of Newcastle, NE1 3BZ, UK</nlm:aff></affiliation></author><author><name sortKey="Lamande, Shireen" sort="Lamande, Shireen" uniqKey="Lamande S" first="Shireen" last="Lamandé">Shireen Lamandé</name><affiliation><nlm:aff id="awt284-AFF15">15 Muscular Dystrophy Research, Cell Biology, Development and Disease, Murdoch Childrens Research Institute, The Royal Children’s Hospital, University of Melbourne, Parkville, VIC 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Hu, Ying" sort="Hu, Ying" uniqKey="Hu Y" first="Ying" last="Hu">Ying Hu</name><affiliation><nlm:aff id="awt284-AFF16">16 Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Gualandi, Francesca" sort="Gualandi, Francesca" uniqKey="Gualandi F" first="Francesca" last="Gualandi">Francesca Gualandi</name><affiliation><nlm:aff id="awt284-AFF17">17 Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, 44100, Italy</nlm:aff></affiliation></author><author><name sortKey="Auh, Sungyoung" sort="Auh, Sungyoung" uniqKey="Auh S" first="Sungyoung" last="Auh">Sungyoung Auh</name><affiliation><nlm:aff id="awt284-AFF18">18 Biostatistics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation><nlm:aff id="awt284-AFF1">1 Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Bonnemann, Carsten G" sort="Bonnemann, Carsten G" uniqKey="Bonnemann C" first="Carsten G." last="Bönnemann">Carsten G. Bönnemann</name><affiliation><nlm:aff id="awt284-AFF16">16 Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24271325</idno><idno type="pmc">3859224</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859224</idno><idno type="RBID">PMC:3859224</idno><idno type="doi">10.1093/brain/awt284</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001816</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001816</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Natural history of pulmonary function in collagen VI-related myopathies</title><author><name sortKey="Foley, A Reghan" sort="Foley, A Reghan" uniqKey="Foley A" first="A. Reghan" last="Foley">A. Reghan Foley</name><affiliation><nlm:aff id="awt284-AFF1">1 Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Quijano Roy, Susana" sort="Quijano Roy, Susana" uniqKey="Quijano Roy S" first="Susana" last="Quijano-Roy">Susana Quijano-Roy</name><affiliation><nlm:aff id="awt284-AFF2">2 Garches Neuromuscular Centre (GNMH), Raymond Poincaré University Hospital (UVSQ), Garches, 92380, France</nlm:aff></affiliation></author><author><name sortKey="Collins, James" sort="Collins, James" uniqKey="Collins J" first="James" last="Collins">James Collins</name><affiliation><nlm:aff id="awt284-AFF3">3 Neurology Division, Cincinnati Children’s Hospital Medical Centre, Cincinnati, Ohio, 45229, USA</nlm:aff></affiliation></author><author><name sortKey="Straub, Volker" sort="Straub, Volker" uniqKey="Straub V" first="Volker" last="Straub">Volker Straub</name><affiliation><nlm:aff id="awt284-AFF4">4 Institute of Genetic Medicine, International Centre for Life, University of Newcastle, NE1 3BZ, UK</nlm:aff></affiliation></author><author><name sortKey="Mccallum, Michelle" sort="Mccallum, Michelle" uniqKey="Mccallum M" first="Michelle" last="Mccallum">Michelle Mccallum</name><affiliation><nlm:aff id="awt284-AFF4">4 Institute of Genetic Medicine, International Centre for Life, University of Newcastle, NE1 3BZ, UK</nlm:aff></affiliation></author><author><name sortKey="Deconinck, Nicolas" sort="Deconinck, Nicolas" uniqKey="Deconinck N" first="Nicolas" last="Deconinck">Nicolas Deconinck</name><affiliation><nlm:aff id="awt284-AFF5">5 Department of Neurology, Queen Fabiola University Children’s Hospital, Free University of Brussels, ULB, Brussels, B-1000, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="awt284-AFF6">6 Neuromuscular Reference Centre, Ghent University Hospital, Ghent, B-9000, Belgium</nlm:aff></affiliation></author><author><name sortKey="Mercuri, Eugenio" sort="Mercuri, Eugenio" uniqKey="Mercuri E" first="Eugenio" last="Mercuri">Eugenio Mercuri</name><affiliation><nlm:aff id="awt284-AFF7">7 Department of Paediatric Neurology, Catholic University, Rome, 00168, Italy</nlm:aff></affiliation></author><author><name sortKey="Pane, Marika" sort="Pane, Marika" uniqKey="Pane M" first="Marika" last="Pane">Marika Pane</name><affiliation><nlm:aff id="awt284-AFF7">7 Department of Paediatric Neurology, Catholic University, Rome, 00168, Italy</nlm:aff></affiliation></author><author><name sortKey="D Mico, Adele" sort="D Mico, Adele" uniqKey="D Mico A" first="Adele" last="D Mico">Adele D Mico</name><affiliation><nlm:aff id="awt284-AFF8">8 Laboratory of Molecular Medicine, Bambino Gesù Children’s Hospital, Rome, 00165, Italy</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="awt284-AFF8">8 Laboratory of Molecular Medicine, Bambino Gesù Children’s Hospital, Rome, 00165, Italy</nlm:aff></affiliation></author><author><name sortKey="North, Kathryn" sort="North, Kathryn" uniqKey="North K" first="Kathryn" last="North">Kathryn North</name><affiliation><nlm:aff id="awt284-AFF9">9 Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, University of Sydney, Westmead, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Ryan, Monique M" sort="Ryan, Monique M" uniqKey="Ryan M" first="Monique M." last="Ryan">Monique M. Ryan</name><affiliation><nlm:aff id="awt284-AFF10">10 Department of Neurology, Royal Children’s Hospital, Murdoch Childrens Research Institute, University of Melbourne, Parkville, VIC 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Richard, Pascale" sort="Richard, Pascale" uniqKey="Richard P" first="Pascale" last="Richard">Pascale Richard</name><affiliation><nlm:aff id="awt284-AFF11">11 AP-HP, Pitié-Salpêtrière Hospital Group, Cardiogenetics and Myogenetics Functional Unit, Metabolic Biochemistry Division, Paris, 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="awt284-AFF12">12 UPMC University of Paris 06, IFR14, Institute of Myology, Paris, 75013, France</nlm:aff></affiliation></author><author><name sortKey="Allamand, Valerie" sort="Allamand, Valerie" uniqKey="Allamand V" first="Valérie" last="Allamand">Valérie Allamand</name><affiliation><nlm:aff id="awt284-AFF12">12 UPMC University of Paris 06, IFR14, Institute of Myology, Paris, 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="awt284-AFF13">13 CNRS, UMR7215, Paris, 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="awt284-AFF14">14 Inserm, U974, Paris, 75013, France</nlm:aff></affiliation></author><author><name sortKey="Hicks, Debbie" sort="Hicks, Debbie" uniqKey="Hicks D" first="Debbie" last="Hicks">Debbie Hicks</name><affiliation><nlm:aff id="awt284-AFF4">4 Institute of Genetic Medicine, International Centre for Life, University of Newcastle, NE1 3BZ, UK</nlm:aff></affiliation></author><author><name sortKey="Lamande, Shireen" sort="Lamande, Shireen" uniqKey="Lamande S" first="Shireen" last="Lamandé">Shireen Lamandé</name><affiliation><nlm:aff id="awt284-AFF15">15 Muscular Dystrophy Research, Cell Biology, Development and Disease, Murdoch Childrens Research Institute, The Royal Children’s Hospital, University of Melbourne, Parkville, VIC 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Hu, Ying" sort="Hu, Ying" uniqKey="Hu Y" first="Ying" last="Hu">Ying Hu</name><affiliation><nlm:aff id="awt284-AFF16">16 Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Gualandi, Francesca" sort="Gualandi, Francesca" uniqKey="Gualandi F" first="Francesca" last="Gualandi">Francesca Gualandi</name><affiliation><nlm:aff id="awt284-AFF17">17 Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, 44100, Italy</nlm:aff></affiliation></author><author><name sortKey="Auh, Sungyoung" sort="Auh, Sungyoung" uniqKey="Auh S" first="Sungyoung" last="Auh">Sungyoung Auh</name><affiliation><nlm:aff id="awt284-AFF18">18 Biostatistics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation><nlm:aff id="awt284-AFF1">1 Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Bonnemann, Carsten G" sort="Bonnemann, Carsten G" uniqKey="Bonnemann C" first="Carsten G." last="Bönnemann">Carsten G. Bönnemann</name><affiliation><nlm:aff id="awt284-AFF16">16 Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The spectrum of clinical phenotypes associated with a deficiency or dysfunction of collagen VI in the extracellular matrix of muscle are collectively termed ‘collagen VI-related myopathies’ and include Ullrich congenital muscular dystrophy, Bethlem myopathy and intermediate phenotypes. To further define the clinical course of these variants, we studied the natural history of pulmonary function in correlation to motor abilities in the collagen VI-related myopathies by analysing longitudinal forced vital capacity data in a large international cohort. Retrospective chart reviews of genetically and/or pathologically confirmed collagen VI-related myopathy patients were performed at 10 neuromuscular centres: USA (<italic>n</italic> = 2), UK (<italic>n</italic> = 2), Australia (<italic>n</italic> = 2), Italy (<italic>n</italic> = 2), France (<italic>n</italic> = 1) and Belgium (<italic>n</italic> = 1). A total of 486 forced vital capacity measurements obtained in 145 patients were available for analysis. Patients at the severe end of the clinical spectrum, conforming to the original description of Ullrich congenital muscular dystrophy were easily identified by severe muscle weakness either preventing ambulation or resulting in an early loss of ambulation, and demonstrated a cumulative decline in forced vital capacity of 2.6% per year (<italic>P</italic> < 0.0001). Patients with better functional abilities, in whom walking with/without assistance was achieved, were initially combined, containing both intermediate and Bethlem myopathy phenotypes in one group. However, one subset of patients demonstrated a continuous decline in pulmonary function whereas the other had stable pulmonary function. None of the patients with declining pulmonary function attained the ability to hop or run; these patients were categorized as intermediate collagen VI-related myopathy and the remaining patients as Bethlem myopathy. Intermediate patients had a cumulative decline in forced vital capacity of 2.3% per year (<italic>P</italic> < 0.0001) whereas the relationship between age and forced vital capacity in patients with Bethlem myopathy was not significant (<italic>P</italic> = 0.1432). Nocturnal non-invasive ventilation was initiated in patients with Ullrich congenital muscular dystrophy by 11.3 years (±4.0) and in patients with intermediate collagen VI-related myopathy by 20.7 years (±1.5). The relationship between maximal motor ability and forced vital capacity was highly significant (<italic>P</italic> < 0.0001). This study demonstrates that pulmonary function profiles can be used in combination with motor function profiles to stratify collagen VI-related myopathy patients phenotypically. These findings improve our knowledge of the natural history of the collagen VI-related myopathies, enabling proactive optimization of care and preparing this patient population for clinical trials.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Brain</journal-id><journal-id journal-id-type="iso-abbrev">Brain</journal-id><journal-id journal-id-type="publisher-id">brainj</journal-id><journal-id journal-id-type="hwp">brain</journal-id><journal-title-group><journal-title>Brain</journal-title></journal-title-group><issn pub-type="ppub">0006-8950</issn><issn pub-type="epub">1460-2156</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24271325</article-id><article-id pub-id-type="pmc">3859224</article-id><article-id pub-id-type="doi">10.1093/brain/awt284</article-id><article-id pub-id-type="publisher-id">awt284</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject></subj-group></article-categories><title-group><article-title>Natural history of pulmonary function in collagen VI-related myopathies</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Foley</surname><given-names>A. Reghan</given-names></name><xref ref-type="aff" rid="awt284-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Quijano-Roy</surname><given-names>Susana</given-names></name><xref ref-type="aff" rid="awt284-AFF2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Collins</surname><given-names>James</given-names></name><xref ref-type="aff" rid="awt284-AFF3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Straub</surname><given-names>Volker</given-names></name><xref ref-type="aff" rid="awt284-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>McCallum</surname><given-names>Michelle</given-names></name><xref ref-type="aff" rid="awt284-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Deconinck</surname><given-names>Nicolas</given-names></name><xref ref-type="aff" rid="awt284-AFF5"><sup>5</sup></xref><xref ref-type="aff" rid="awt284-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mercuri</surname><given-names>Eugenio</given-names></name><xref ref-type="aff" rid="awt284-AFF7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pane</surname><given-names>Marika</given-names></name><xref ref-type="aff" rid="awt284-AFF7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>D’Amico</surname><given-names>Adele</given-names></name><xref ref-type="aff" rid="awt284-AFF8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bertini</surname><given-names>Enrico</given-names></name><xref ref-type="aff" rid="awt284-AFF8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>North</surname><given-names>Kathryn</given-names></name><xref ref-type="aff" rid="awt284-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ryan</surname><given-names>Monique M.</given-names></name><xref ref-type="aff" rid="awt284-AFF10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Richard</surname><given-names>Pascale</given-names></name><xref ref-type="aff" rid="awt284-AFF11"><sup>11</sup></xref><xref ref-type="aff" rid="awt284-AFF12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Allamand</surname><given-names>Valérie</given-names></name><xref ref-type="aff" rid="awt284-AFF12"><sup>12</sup></xref><xref ref-type="aff" rid="awt284-AFF13"><sup>13</sup></xref><xref ref-type="aff" rid="awt284-AFF14"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hicks</surname><given-names>Debbie</given-names></name><xref ref-type="aff" rid="awt284-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lamandé</surname><given-names>Shireen</given-names></name><xref ref-type="aff" rid="awt284-AFF15"><sup>15</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hu</surname><given-names>Ying</given-names></name><xref ref-type="aff" rid="awt284-AFF16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gualandi</surname><given-names>Francesca</given-names></name><xref ref-type="aff" rid="awt284-AFF17"><sup>17</sup></xref></contrib><contrib contrib-type="author"><name><surname>Auh</surname><given-names>Sungyoung</given-names></name><xref ref-type="aff" rid="awt284-AFF18"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Muntoni</surname><given-names>Francesco</given-names></name><xref ref-type="aff" rid="awt284-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Bönnemann</surname><given-names>Carsten G.</given-names></name><xref ref-type="aff" rid="awt284-AFF16"><sup>16</sup></xref></contrib><aff id="awt284-AFF1">1 Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 1EH, UK</aff><aff id="awt284-AFF2">2 Garches Neuromuscular Centre (GNMH), Raymond Poincaré University Hospital (UVSQ), Garches, 92380, France</aff><aff id="awt284-AFF3">3 Neurology Division, Cincinnati Children’s Hospital Medical Centre, Cincinnati, Ohio, 45229, USA</aff><aff id="awt284-AFF4">4 Institute of Genetic Medicine, International Centre for Life, University of Newcastle, NE1 3BZ, UK</aff><aff id="awt284-AFF5">5 Department of Neurology, Queen Fabiola University Children’s Hospital, Free University of Brussels, ULB, Brussels, B-1000, Belgium</aff><aff id="awt284-AFF6">6 Neuromuscular Reference Centre, Ghent University Hospital, Ghent, B-9000, Belgium</aff><aff id="awt284-AFF7">7 Department of Paediatric Neurology, Catholic University, Rome, 00168, Italy</aff><aff id="awt284-AFF8">8 Laboratory of Molecular Medicine, Bambino Gesù Children’s Hospital, Rome, 00165, Italy</aff><aff id="awt284-AFF9">9 Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, University of Sydney, Westmead, NSW 2145, Australia</aff><aff id="awt284-AFF10">10 Department of Neurology, Royal Children’s Hospital, Murdoch Childrens Research Institute, University of Melbourne, Parkville, VIC 3052, Australia</aff><aff id="awt284-AFF11">11 AP-HP, Pitié-Salpêtrière Hospital Group, Cardiogenetics and Myogenetics Functional Unit, Metabolic Biochemistry Division, Paris, 75013, France</aff><aff id="awt284-AFF12">12 UPMC University of Paris 06, IFR14, Institute of Myology, Paris, 75013, France</aff><aff id="awt284-AFF13">13 CNRS, UMR7215, Paris, 75013, France</aff><aff id="awt284-AFF14">14 Inserm, U974, Paris, 75013, France</aff><aff id="awt284-AFF15">15 Muscular Dystrophy Research, Cell Biology, Development and Disease, Murdoch Childrens Research Institute, The Royal Children’s Hospital, University of Melbourne, Parkville, VIC 3052, Australia</aff><aff id="awt284-AFF16">16 Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892, USA</aff><aff id="awt284-AFF17">17 Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, 44100, Italy</aff><aff id="awt284-AFF18">18 Biostatistics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892, USA</aff></contrib-group><author-notes><corresp>Correspondence to: Carsten G. Bönnemann, MD Chief, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland 20892 USA E-mail: <email>carsten.bonnemann@nih.gov</email></corresp></author-notes><pub-date pub-type="ppub"><month>12</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>22</day><month>11</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>12</month><year>2014</year></pub-date><volume>136</volume><issue>12</issue><fpage>3625</fpage><lpage>3633</lpage><history><date date-type="received"><day>28</day><month>3</month><year>2013</year></date><date date-type="rev-recd"><day>21</day><month>8</month><year>2013</year></date><date date-type="accepted"><day>26</day><month>8</month><year>2013</year></date></history><permissions><copyright-statement>Published by Oxford University Press on behalf of the Guarantors of Brain 2013. This work is written by US Government employees and is in the public domain in the US.</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><p>The spectrum of clinical phenotypes associated with a deficiency or dysfunction of collagen VI in the extracellular matrix of muscle are collectively termed ‘collagen VI-related myopathies’ and include Ullrich congenital muscular dystrophy, Bethlem myopathy and intermediate phenotypes. To further define the clinical course of these variants, we studied the natural history of pulmonary function in correlation to motor abilities in the collagen VI-related myopathies by analysing longitudinal forced vital capacity data in a large international cohort. Retrospective chart reviews of genetically and/or pathologically confirmed collagen VI-related myopathy patients were performed at 10 neuromuscular centres: USA (<italic>n</italic> = 2), UK (<italic>n</italic> = 2), Australia (<italic>n</italic> = 2), Italy (<italic>n</italic> = 2), France (<italic>n</italic> = 1) and Belgium (<italic>n</italic> = 1). A total of 486 forced vital capacity measurements obtained in 145 patients were available for analysis. Patients at the severe end of the clinical spectrum, conforming to the original description of Ullrich congenital muscular dystrophy were easily identified by severe muscle weakness either preventing ambulation or resulting in an early loss of ambulation, and demonstrated a cumulative decline in forced vital capacity of 2.6% per year (<italic>P</italic> < 0.0001). Patients with better functional abilities, in whom walking with/without assistance was achieved, were initially combined, containing both intermediate and Bethlem myopathy phenotypes in one group. However, one subset of patients demonstrated a continuous decline in pulmonary function whereas the other had stable pulmonary function. None of the patients with declining pulmonary function attained the ability to hop or run; these patients were categorized as intermediate collagen VI-related myopathy and the remaining patients as Bethlem myopathy. Intermediate patients had a cumulative decline in forced vital capacity of 2.3% per year (<italic>P</italic> < 0.0001) whereas the relationship between age and forced vital capacity in patients with Bethlem myopathy was not significant (<italic>P</italic> = 0.1432). Nocturnal non-invasive ventilation was initiated in patients with Ullrich congenital muscular dystrophy by 11.3 years (±4.0) and in patients with intermediate collagen VI-related myopathy by 20.7 years (±1.5). The relationship between maximal motor ability and forced vital capacity was highly significant (<italic>P</italic> < 0.0001). This study demonstrates that pulmonary function profiles can be used in combination with motor function profiles to stratify collagen VI-related myopathy patients phenotypically. These findings improve our knowledge of the natural history of the collagen VI-related myopathies, enabling proactive optimization of care and preparing this patient population for clinical trials.</p></abstract><kwd-group kwd-group-type="keywords"><kwd>collagen VI-related myopathies</kwd><kwd>natural history</kwd><kwd>forced vital capacity</kwd><kwd>optimization of care</kwd><kwd>outcome measure</kwd></kwd-group><counts><page-count count="9"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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