期刊
NEUROMUSCULAR DISORDERS
卷 28, 期 2, 页码 103-115出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2017.11.005
关键词
Spinal muscular atrophy; Care; Diagnosis; Orthopedic; Phisotherapy; Nutrition
资金
- European Neuromuscular Consortium (ENMC)
- TREAT-NMD
- SMA Europe
- SMA support UK
- SMA Foundation
- Cure SMA
- Italian Telethon
- National Institute for Health Research [NF-SI-0515-10022] Funding Source: researchfish
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. (C) 2017 Published by Elsevier B.V.
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