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

作者：Eugenio Maria Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion L. Main, Elena Stacy Mazzone, Michael G. Vitale, Brian D. Snyder, Susana Quijano‐Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita Kay Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon D S Woods, Ying Qian, Thomas Sejersen, Francesco Muntoni, Brunhilde Wirth, Francesco Danilo Tiziano, Janbernd Kirschner, Eduardo Fidel Tizzano, Haluk Topaloğlu, Kathy Swoboda, Nigel G. Laing, Saito Kayoko, Thomas W. Prior, Wendy K. Chung, Shou‐Mei Wu, Jacqueline Montes, Elena Stacy Mazzone, Marion L. Main, Caron Coleman, Richard Gee, Allan M. Glanzman, Anna‐Karin Kroksmark, Kristin J. Krosschell, Leslie L. Nelson, Kristy J. Rose, Agnieszka Stępień, Carole Vuillerot, Michael G. Vitale, Brian D. Snyder, Susana Quijano-Roy, Jean Dubousset, David M. Farrington, Jack M. Flynn, Matthew Aaron Halanski, Carol Claudius Hasler, Lotfi Miladi, Christopher Reilly, Benjamin D. Roye, Paul David Sponseller, Muharrem Yazici, Rebecca L. Hurst, Enrico Bertini, Stacey Tarrant, Salesa Barja Y., Simona Bertoli, Thomas O. Crawford, Kevin D. Foust, Barbara Kyle, Lance H. Rodan, Helen Roper, Erin E. Seffrood, Kathryn J. Swoboda, Agnieszka Szlagatys‐Sidorkiewicz · 发表于：Neuromuscular Disorders · 年份：2017 · DOI：10.1016/j.nmd.2017.11.005 · 被引用次数：1081 · 研究领域：Neurogenetic and Muscular Disorders Research、Congenital Anomalies and Fetal Surgery、Cardiac Structural Anomalies and Repair

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.