Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Eugenio Mercuri, Richard S Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S Mazzone, Michael Vitale, 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 Woods, Ying Qian, Thomas Sejersen, SMA Care Group, Francesco Muntoni, Brunhilde Wirth, Francesco Danilo Tiziano, Janbernd Kirschner, Eduardo Tizzano, Haluk Topaloglu, Kathy Swoboda, Nigel Laing, Saito Kayoko, Thomas Prior, Wendy K Chung, Shou-Mei Wu, Jacqueline Montes, Elena Mazzone, Marion Main, Caron Coleman, Richard Gee, Allan Glanzman, Anna-Karin Kroksmark, Kristin Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Jean Dubousset, David Farrington, Jack Flynn, Matthew Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin Roye, Paul Sponseller, Muharrem Yazici, Rebecca Hurst, Enrico Bertini, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas Crawford, Kevin Foust, Barbara Kyle, Lance Rodan, Helen Roper, Erin Seffrood, Kathryn Swoboda, Agnieszka Szlagatys-Sidorkiewicz, Eugenio Mercuri, Richard S Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S Mazzone, Michael Vitale, 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 Woods, Ying Qian, Thomas Sejersen, SMA Care Group, Francesco Muntoni, Brunhilde Wirth, Francesco Danilo Tiziano, Janbernd Kirschner, Eduardo Tizzano, Haluk Topaloglu, Kathy Swoboda, Nigel Laing, Saito Kayoko, Thomas Prior, Wendy K Chung, Shou-Mei Wu, Jacqueline Montes, Elena Mazzone, Marion Main, Caron Coleman, Richard Gee, Allan Glanzman, Anna-Karin Kroksmark, Kristin Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Jean Dubousset, David Farrington, Jack Flynn, Matthew Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin Roye, Paul Sponseller, Muharrem Yazici, Rebecca Hurst, Enrico Bertini, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas Crawford, Kevin Foust, Barbara Kyle, Lance Rodan, Helen Roper, Erin Seffrood, Kathryn Swoboda, Agnieszka Szlagatys-Sidorkiewicz
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.
Keywords: Care; Diagnosis; Nutrition; Orthopedic; Phisotherapy; Spinal muscular atrophy.
Copyright © 2017. Published by Elsevier B.V.
Source: PubMed