| Literature DB >> 29290580 |
Eugenio Mercuri1, Richard S Finkel2, Francesco Muntoni3, Brunhilde Wirth4, Jacqueline Montes5, Marion Main3, Elena S Mazzone6, Michael Vitale7, Brian Snyder8, Susana Quijano-Roy9, Enrico Bertini10, Rebecca Hurst Davis11, Oscar H Meyer12, Anita K Simonds13, Mary K Schroth14, Robert J Graham15, Janbernd Kirschner16, Susan T Iannaccone17, Thomas O Crawford18, Simon Woods19, Ying Qian20, Thomas Sejersen21.
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.Entities:
Keywords: Care; Diagnosis; Nutrition; Orthopedic; Phisotherapy; Spinal muscular atrophy
Mesh：
Year: 2017 PMID： 29290580 DOI： 10.1016/j.nmd.2017.11.005
Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296