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


Eugenio Mercuria, Richard S.Finkel, Francesco Muntoni, Brunhilde Wirthe, Jacqueline Montes, Marion Main, Elena S.Mazzone, Michael Vital, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H.Meyer, Anita K.Simonds, Mary K.Schroth, Robert J.Graham, Janbernd Kirschner, Susan T.Iannaccone, Thomas O.Crawford, Simon Wood, Ying Qianu, Thomas Sejersen for the SMA Care Group


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.

Published: 1 February 2018
Journal: Neuromuscular Disorders, volume 28, issue 2, pages 103-115

Link: doi.org/10.1016/j.nmd.2017.11.005

This publication is recommended by the Motor Neuron Diseases Working Group group.

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