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

2017; Elsevier BV; Volume: 28; Issue: 2 Linguagem: Inglês

10.1016/j.nmd.2017.11.005

1873-2364

Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena Mazzone, Michael G. Vitale, Brian D. Snyder, Susana Quijano‐Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen, Francesco Muntoni, Brunhilde Wirth, Francesco Danilo Tiziano, Janbernd Kirschner, Eduardo F. Tizzano, Haluk Topaloğlu, Kathryn J. Swoboda, Nigel G. Laing, Kayoko Saito, Thomas W. Prior, Wendy K. Chung, Shou‐Mei Wu, Jacqueline Montes, Elena Mazzone, Marion Main, Caron Coleman, Richard Gee, Allan M. Glanzman, Anna‐Karin Kroksmark, Kristin J. Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Michael G. Vitale, Brian D. Snyder, Susana Quijano-Roy, Jean Dubousset, David M. Farrington, Jack Flynn, Matthew A. Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin D. Roye, Paul D. Sponseller, Muharrem Yazici, Rebecca Hurst, Enrico Bertini, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas O. Crawford, Kevin D. Foust, Barbara Kyle, Lance H. Rodan, Helen Roper, Erin Seffrood, Kathryn J. Swoboda, Agnieszka Szlagatys‐Sidorkiewicz,

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.