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Myopathy / Rare diseases / Nemaline myopathy / Congenital myopathy / Central core disease / Muscle biopsy / Neuromuscular disease / Malignant hyperthermia / X-linked myotubular myopathy / Health / Medicine / Centronuclear myopathy


Journal http://jcn.sagepub.com/ of Child Neurology Consensus Statement on Standard of Care for Congenital Myopathies Ching H. Wang, James J. Dowling, Kathryn North, Mary K. Schroth, Thomas Sejersen, Frederic Shapiro, Jon
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Document Date: 2012-04-05 00:23:08

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Stanford University / Children’s Hospital of Philadelphia / University of Sydney / University of Western Australia / Federal University of Minas Gerais / University of Florida / University of Wisconsin School / Seattle Children’s Hospital / Children’s National Medical Center / University of New Mexico School / Stanford University Medical Center / USA University of Michigan / Evelina Children’s Hospital / University School / University of Sao Paulo / Karolinska Institute / Dubowitz Neuromuscular Centre / Children’s Research Hospital / /

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gas exchange / online version / mobility devices / venous blood gas / on gas exchange / online surveys / cardiology services / magnetic resonance imaging / frequent e-mail communications / therapy services / treatment of respiratory complications in neuromuscular diseases / care for children with neuromuscular disorders / organ systems / muscle imaging patterns / online survey / /

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nemaline myopathy / acute illness / pulmonary screening studies / rods Core-rod myopathy AD / X-linked myotubular myopathy / AD Congenital myopathies / ophthalmoplegia / AD AD Zebra body myopathy / Transient cardiac failure / illness / muscle rigidity / scoliosis / maximal expiratory pressure Peak cough / hypoventilation / different congenital myopathies / acute respiratory insufficiency / Significant cognitive impairment / pediatric neuromuscular disorders / Muscle pain / myotubular myopathy / recurrent chest infections / severe respiratory disease / Gradual hypoventilation / diseases / severe congenital nemaline myopathy / disorders / cor pulmonale / neuromuscular disorders / Sporadic lateonset nemaline myopathy / American myopathy / late-onset DNM2-related centronuclear myopathy / chronic pain / cardiac failure / typical central core disease / muscle weakness / primary cardiomyopathy / recurrent respiratory infections / severe respiratory failure / bulbar dysfunction / multi-minicore disease / primary cardiomyopathies / influenza / nocturnal hypoventilation / restrictive lung disease / osteopenia / disease / AD AR AR Cap disease / AR Congenital myopathies / intermediate congenital and typical congenital nemaline myopathy classifications / Congenital Myopathies Ching H. Wang / DNM2-related centronuclear myopathy / serial pulmonary function / eye irritation / skeletal deformities / pain / pulmonary dysfunction / respiratory insufficiency / respiratory disease / congenital muscular dystrophies / centralized nuclei Myotubular myopathy Centronuclear myopathy X-linked AD AR AR Congenital myopathies / chronic ventilatory support / acute severe respiratory failure / myopathy / specific myopathy / peak cough / pulmonary care / congenital myopathy / nemaline AD myopathy / severe respiratory muscle weakness / Impaired cough / chronic hypercarbia / critical illness / disorder / acute respiratory infection / myopathies / specific congenital myopathies / individual myopathies / intercurrent illness / SEPN1-related myopathies / respiratory failure / respiratory acidosis / manual assisted cough / pulmonary function / individual myopathy / progressive joint contractures / mild cognitive impairment / RYR1-related myopathies / respiratory muscle weakness / both dominant and recessive RYR1related myopathies / contractures / Congenital Myopathies Disorder Inheritance Congenital myopathies / rare congenital muscle disease / protein accumulations Nemaline myopathy AD / chronic respiratory insufficiency / rarer congenital myopathies / pulmonary involvement / acute respiratory failure / central core disease / obstructive sleep apnea / progressive respiratory failure / sleep disordered breathing / late-onset centronuclear myopathy / pulmonary subspecialists / pharmacogenetic disorder / SEPN1related myopathy / muscle diseases / fatigue / obesity / assisted cough / chronic atelectasis / SEPN1-related multi-minicore disease36 / 37and nemaline myopathy / early respiratory muscle weakness / Progressive scoliosis / congenital myopathies / childhood-onset nemaline myopathy / Central core disease AD / Ophthalmoparesis / centronuclear myopathy / Significant respiratory dysfunction / each congenital myopathy / patient’s cough / largest available study reporting pulmonary involvement / Sporadic late-onset nemaline myopathy / Undescended testis / rare neuromuscular disorders / contraction / Myosin storage myopathy / ischemic encephalopathy / atelectasis / joint contractures / AD nemaline myopathy / Individual Congenital Myopathies / Progressive dementia / overall muscle weakness / /

MedicalTreatment

immunizations / surgery / high-frequency chest wall oscillation / Continuous positive airway pressure / speech therapy / physiotherapy / vaccinations / positive pressure ventilation / insufflation / physical therapy / immunosuppression / massage / mechanical ventilation / occupational therapy / /

Organization

National Resource Centre for Oral Health / Dubowitz Neuromuscular Centre / University of Michigan / Ann Arbor / University of Sydney / Department of Neurology and Neurological Sciences / Washington University School of Medicine / Division of Child Neurology / University of Wisconsin School of Medicine and Public Health / University of Sao Paulo / Sao Paulo / Karolinska Institute / Stockholm / Children’s Hospital of Philadelphia / Potential / Harvard School of Medicine / University of Western Australia / AR AD / University of New Mexico School of Medicine / Evelina Children’s Hospital / Stanford University Medical Center / Stanford University Institution Review Board / Children’s Research Hospital / Seattle Children’s Hospital / Care Committee for Congenital Myopathies / Stanford University School of Medicine / National Medical Center / Care Committee / International Committee on Standard of Care for Congenital Myopathies In / Federal University of Minas Gerais / Belo Horizonte / Stanford University / University of Florida / Democrats / /

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Marc Guillet / Caroline Sewry / Nigel Clarke / Frederic Shapiro / Kimberly Amburgey / Allan M. Glanzman / Anne M. Connolly / Kathryn North / Pamela M. Schuler / Juliana Gurgel-Giannetti / Susan Apkon / Ching H. Wang / James J. Dowling / Kari Storhaug / Kristy Rose / Marion Main / Brittany Hofmeister / Dominic Fitzgerald / Carsten Bonnemann / Craig Munns / Leslie A. Morrison / Anastassios C. Koumbourlis / Raymond Poincare / Bethesda / Nigel G. Laing / Heinz Jungbluth / Congenital Myopathies / Enrico Bertini / Brigitte Estournet-Mathiaud / Nanci Yuan / Thomas Sejersen / Jonathan Bellini / Richard Gee / Mary K. Schroth / /

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Position

physician / Author / neuromuscular specialist / Consultant Neurologist / pediatric neurologist / Corresponding Author / cardiologist / pediatric neuromuscular specialist / general practitioner / chair / /

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gabapentin / sevoflurane / halothane / vitamin D / /

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FL / /

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New Mexico / California / Nebraska / Michigan / Western Australia / Florida / /

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CBG / /

Region

Western Australia / /

SportsLeague

Stanford University / /

Technology

magnetic resonance imaging / genotype / ultrasound / transplantation / MRI / /

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http /

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