Mercuri, E;
Finkel, RS;
Muntoni, F;
Wirth, B;
Montes, J;
Main, M;
Mazzone, ES;
... SMA Care Group, .; + view all
(2018)
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Neuromuscular Disorders
, 28
(2)
pp. 103-115.
10.1016/j.nmd.2017.11.005.
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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.
| Type: | Article |
|---|---|
| Title: | Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.nmd.2017.11.005 |
| Publisher version: | https://doi.org/10.1016/j.nmd.2017.11.005 |
| Language: | English |
| Additional information: | © 2018 The Authors. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/ licenses/by-nc-nd/4.0/). |
| Keywords: | Spinal muscular atrophy; Care; Diagnosis; Orthopedic; Phisotherapy; Nutrition |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10065763 |
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