Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

Rebecca Hurst Davis, Thomas Sejersen, Ying Qian, Simon Woods, Thomas O Crawford, Susan T Iannaccone, Janbernd Kirschner, Robert J Graham, Mary K Schroth, Anita K Simonds, Oscar H Meyer, Eugenio Mercuri, Enrico Bertini, Susana Quijano-Roy, Brian Snyder, Michael Vitale, Elena S Mazzone, Marion Main, Jacqueline Montes, Brunhilde Wirth, Francesco Muntoni, Richard S Finkel

Journal: Neuromuscular disorders : NMD 2019;28(2):103-115

PMID: 29290580

Abstract

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2.

Copyright © 2017. Published by Elsevier B.V.

Address: Paediatric Neurology Unit, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy. Electronic address: [email protected].; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, FL, USA.; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Institute of Human Genetics, Center for Molecular Medicine, Center for Rare Diseases and Institute for Genetics, University of Cologne, Germany.; Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Medical Center, New York, NY, USA.; Paediatric Neurology Unit, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy.; Department of Orthopaedic Surgery, Columbia University Medical Center, New York, NY, USA.; Department of Orthopaedic Surgery, Children's Hospital, Harvard Medical School, Boston, USA.; Assistance Publique des Hôpitaux de Paris (AP-HP), Unit of Neuromuscular Disorders, Department of Pediatric Intensive Care, Neurology and Rehabilitation, Hôpital Raymond Poincaré, Garches, France; Hôpitaux Universitaires Paris-Ile-de-France Ouest, INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ), Paris, France.; Unit of Neuromuscular & Neurodegenerative Disorders, Dept of Neurosciences & Neurorehabilitation, Bambino Gesù Children's Research Hospital, Rome, Italy.; Intermountain Healthcare, University of Utah, Salt Lake City, UT, USA.; Division of Pulmonology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; NIHR Respiratory Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, London, UK.; Division of Pediatric Pulmonary, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, American Family Children's Hospital, Madison, WI, USA.; Division of Critical Care, Dept of Anesthesiology, Perioperative & Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Departments of Pediatrics and Neurology and Neurotherapeutics, Division of Pediatric Neurology, University of Texas Southwestern Medical Center and Children's Medical Center Dallas, USA.; Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.; Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle, UK.; SMA Foundation, New York, NY, USA.; Department of Women's and Children's Health, Paediatric Neurology, Karolinska Institute, Stockholm, Sweden.; UK.; Germany.; Italy.; Spain.; Turkey.; USA.; Australia.; Japan.; Taiwan.; Sweden.; Poland.; France.; Switzerland.; Canada.; Chile.
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