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Mercuri, Eugenio; Finkel, Richard S.; Muntoni, Francesco; Wirth, Brunhilde; Montes, Jacqueline; Main, Marion; Mazzone, Elena S.; Vitale, Michael; Snyder, Brian; Quijano-Roy, Susana; Bertini, Enrico; Davis, Rebecca Hurst; Meyer, Oscar H.; Simonds, Anita K.; Schroth, Mary K.; Graham, Robert J.; Kirschner, Janbernd; Iannaccone, Susan T.; Crawford, Thomas O.; Woods, Simon; Qian, Ying; Sejersen, Thomas; Muntoni, Francesco; Wirth, Brunhilde; Tiziano, Francesco Danilo; Kirschner, Janbernd; Tizzano, Eduardo; Topaloglu, Haluk; Swoboda, Kathy; Laing, Nigel; Kayoko, Saito; Prior, Thomas; Chung, Wendy K.; Wu, Shou-Mei; Montes, Jacqueline; Mazzone, Elena; Main, Marion; Coleman, Caron; Gee, Richard; Glanzman, Allan; Kroksmark, Anna-Karin; Krosschell, Kristin; Nelson, Leslie; Rose, Kristy; Stępień, Agnieszka; Vuillerot, Carole; Vitale, Michael; Snyder, Brian; Quijano-Roy, Susana; Dubousset, Jean; Farrington, David; Flynn, Jack; Halanski, Matthew; Hasler, Carol; Miladi, Lotfi; Reilly, Christopher; Roye, Benjamin; Sponseller, Paul; Yazici, Muharrem; Hurst, Rebecca; Bertini, Enrico; Tarrant, Stacey; Barja, Salesa; Bertoli, Simona; Crawford, Thomas; Foust, Kevin; Kyle, Barbara; Rodan, Lance; Roper, Helen; Seffrood, Erin; Swoboda, Kathryn; Szlagatys-Sidorkiewicz, Agnieszka
Neuromuscular disorders : NMD, 02/2018, Volume: 28, Issue: 2Journal Article
•We report an update on standards of care recommendations for spinal muscular atrophy.•The paper provides a review of the recent literature.•Expert opinion is provided where there was not enough published evidence. 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.
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