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

Eugenio Mercuri¹, Richard S Finkel², Francesco Muntoni³, Brunhilde Wirth⁴, Jacqueline Montes⁵, Marion Main³, Elena S Mazzone⁶, Michael Vitale⁷, Brian Snyder⁸, Susana Quijano-Roy⁹, Enrico Bertini¹⁰, Rebecca Hurst Davis¹¹, Oscar H Meyer¹², Anita K Simonds¹³, Mary K Schroth¹⁴, Robert J Graham¹⁵, Janbernd Kirschner¹⁶, Susan T Iannaccone¹⁷, Thomas O Crawford¹⁸, Simon Woods¹⁹, Ying Qian²⁰, Thomas Sejersen²¹; SMA Care Group

Collaborators, Affiliations

Collaborators

SMA Care Group:
Francesco Muntoni²², Brunhilde Wirth²³, Francesco Danilo Tiziano²⁴, Janbernd Kirschner²³, Eduardo Tizzano²⁵, Haluk Topaloglu²⁶, Kathy Swoboda²⁷, Nigel Laing²⁸, Saito Kayoko²⁹, Thomas Prior²⁷, Wendy K Chung²⁷, Shou-Mei Wu³⁰, Jacqueline Montes²⁷, Elena Mazzone²⁴, Marion Main²², Caron Coleman²², Richard Gee²⁷, Allan Glanzman²⁷, Anna-Karin Kroksmark³¹, Kristin Krosschell²⁷, Leslie Nelson²⁷, Kristy Rose²⁸, Agnieszka Stępień³², Carole Vuillerot³³, Michael Vitale²⁷, Brian Snyder²⁷, Susana Quijano-Roy³³, Jean Dubousset³³, David Farrington²⁵, Jack Flynn²⁷, Matthew Halanski²⁷, Carol Hasler³⁴, Lotfi Miladi³³, Christopher Reilly³⁵, Benjamin Roye²⁷, Paul Sponseller²⁷, Muharrem Yazici²⁶, Rebecca Hurst²⁷, Enrico Bertini²⁴, Stacey Tarrant²⁷, Salesa Barja³⁶, Simona Bertoli²⁴, Thomas Crawford²⁷, Kevin Foust²⁷, Barbara Kyle²⁷, Lance Rodan²⁷, Helen Roper²², Erin Seffrood²⁷, Kathryn Swoboda²⁷, Agnieszka Szlagatys-Sidorkiewicz³²

Affiliations

¹ Paediatric Neurology Unit, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy. Electronic address: eumercuri@gmail.com.
² Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, FL, USA.
³ Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
⁴ Institute of Human Genetics, Center for Molecular Medicine, Center for Rare Diseases and Institute for Genetics, University of Cologne, Germany.
⁵ Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Medical Center, New York, NY, USA.
⁶ Paediatric Neurology Unit, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy.
⁷ Department of Orthopaedic Surgery, Columbia University Medical Center, New York, NY, USA.
⁸ Department of Orthopaedic Surgery, Children's Hospital, Harvard Medical School, Boston, USA.
⁹ 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.
¹⁰ Unit of Neuromuscular & Neurodegenerative Disorders, Dept of Neurosciences & Neurorehabilitation, Bambino Gesù Children's Research Hospital, Rome, Italy.
¹¹ Intermountain Healthcare, University of Utah, Salt Lake City, UT, USA.
¹² Division of Pulmonology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
¹³ NIHR Respiratory Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, London, UK.
¹⁴ Division of Pediatric Pulmonary, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, American Family Children's Hospital, Madison, WI, USA.
¹⁵ Division of Critical Care, Dept of Anesthesiology, Perioperative & Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
¹⁶ Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
¹⁷ Departments of Pediatrics and Neurology and Neurotherapeutics, Division of Pediatric Neurology, University of Texas Southwestern Medical Center and Children's Medical Center Dallas, USA.
¹⁸ Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.
¹⁹ Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle, UK.
²⁰ SMA Foundation, New York, NY, USA.
²¹ Department of Women's and Children's Health, Paediatric Neurology, Karolinska Institute, Stockholm, Sweden.
²² UK.
²³ Germany.
²⁴ Italy.
²⁵ Spain.
²⁶ Turkey.
²⁷ USA.
²⁸ Australia.
²⁹ Japan.
³⁰ Taiwan.
³¹ Sweden.
³² Poland.
³³ France.
³⁴ Switzerland.
³⁵ Canada.
³⁶ Chile.

PMID: 29290580
DOI: 10.1016/j.nmd.2017.11.005

Free article

Review

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

Eugenio Mercuri et al. Neuromuscul Disord. 2018 Feb.

Free article

. 2018 Feb;28(2):103-115.

doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.

Authors

Collaborators

SMA Care Group:
Francesco Muntoni²², Brunhilde Wirth²³, Francesco Danilo Tiziano²⁴, Janbernd Kirschner²³, Eduardo Tizzano²⁵, Haluk Topaloglu²⁶, Kathy Swoboda²⁷, Nigel Laing²⁸, Saito Kayoko²⁹, Thomas Prior²⁷, Wendy K Chung²⁷, Shou-Mei Wu³⁰, Jacqueline Montes²⁷, Elena Mazzone²⁴, Marion Main²², Caron Coleman²², Richard Gee²⁷, Allan Glanzman²⁷, Anna-Karin Kroksmark³¹, Kristin Krosschell²⁷, Leslie Nelson²⁷, Kristy Rose²⁸, Agnieszka Stępień³², Carole Vuillerot³³, Michael Vitale²⁷, Brian Snyder²⁷, Susana Quijano-Roy³³, Jean Dubousset³³, David Farrington²⁵, Jack Flynn²⁷, Matthew Halanski²⁷, Carol Hasler³⁴, Lotfi Miladi³³, Christopher Reilly³⁵, Benjamin Roye²⁷, Paul Sponseller²⁷, Muharrem Yazici²⁶, Rebecca Hurst²⁷, Enrico Bertini²⁴, Stacey Tarrant²⁷, Salesa Barja³⁶, Simona Bertoli²⁴, Thomas Crawford²⁷, Kevin Foust²⁷, Barbara Kyle²⁷, Lance Rodan²⁷, Helen Roper²², Erin Seffrood²⁷, Kathryn Swoboda²⁷, Agnieszka Szlagatys-Sidorkiewicz³²

Affiliations

¹ Paediatric Neurology Unit, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy. Electronic address: eumercuri@gmail.com.
² Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, FL, USA.
³ Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
⁴ Institute of Human Genetics, Center for Molecular Medicine, Center for Rare Diseases and Institute for Genetics, University of Cologne, Germany.
⁵ Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Medical Center, New York, NY, USA.
⁶ Paediatric Neurology Unit, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy.
⁷ Department of Orthopaedic Surgery, Columbia University Medical Center, New York, NY, USA.
⁸ Department of Orthopaedic Surgery, Children's Hospital, Harvard Medical School, Boston, USA.
⁹ 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.
¹⁰ Unit of Neuromuscular & Neurodegenerative Disorders, Dept of Neurosciences & Neurorehabilitation, Bambino Gesù Children's Research Hospital, Rome, Italy.
¹¹ Intermountain Healthcare, University of Utah, Salt Lake City, UT, USA.
¹² Division of Pulmonology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
¹³ NIHR Respiratory Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, London, UK.
¹⁴ Division of Pediatric Pulmonary, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, American Family Children's Hospital, Madison, WI, USA.
¹⁵ Division of Critical Care, Dept of Anesthesiology, Perioperative & Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
¹⁶ Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
¹⁷ Departments of Pediatrics and Neurology and Neurotherapeutics, Division of Pediatric Neurology, University of Texas Southwestern Medical Center and Children's Medical Center Dallas, USA.
¹⁸ Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.
¹⁹ Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle, UK.
²⁰ SMA Foundation, New York, NY, USA.
²¹ Department of Women's and Children's Health, Paediatric Neurology, Karolinska Institute, Stockholm, Sweden.
²² UK.
²³ Germany.
²⁴ Italy.
²⁵ Spain.
²⁶ Turkey.
²⁷ USA.
²⁸ Australia.
²⁹ Japan.
³⁰ Taiwan.
³¹ Sweden.
³² Poland.
³³ France.
³⁴ Switzerland.
³⁵ Canada.
³⁶ Chile.

PMID: 29290580
DOI: 10.1016/j.nmd.2017.11.005

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.

Keywords: Care; Diagnosis; Nutrition; Orthopedic; Phisotherapy; Spinal muscular atrophy.

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

Collaborators

Affiliations

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

Authors

Collaborators

Affiliations

Abstract

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical