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Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.

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

Author information

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.

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

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