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

E. Mercuri, R.S. Finkel, F. Muntoni, B. Wirth, J. Montes, M. Main, E.S. Mazzone, M. Vitale, B. Snyder, S. Quijano-Roy, E. Bertini, R.H. Davis, O.H. Meyer, A.K. Simonds, M.K. Schroth, R.J. Graham, J. Kirschner, S.T. Iannaccone, T.O. Crawford, S. WoodsY. Qian, T. Sejersen, F.D. Tiziano, E. Tizzano, H. Topaloglu, K. Swoboda, N. Laing, S. Kayoko, T. Prior, W.K. Chung, S.-M. Wu, C. Coleman, R. Gee, A. Glanzman, A.-K. Kroksmark, K. Krosschell, L. Nelson, K. Rose, A. Stępień, C. Vuillerot, J. Dubousset, D. Farrington, J. Flynn, M. Halanski, C. Hasler, L. Miladi, C. Reilly, B. Roye, M. Yazici, S. Bertoli

Research output: Contribution to journalArticlepeer-review

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. © 2017
Original languageEnglish
Pages (from-to)103-115
Number of pages13
JournalNeuromuscular Disorders
Volume28
Issue number2
DOIs
Publication statusPublished - 2018

Keywords

  • Article
  • body position
  • breathing exercise
  • clinical effectiveness
  • clinical feature
  • contracture
  • digestive system function disorder
  • dysphagia
  • hip instability
  • human
  • intervention study
  • joint instability
  • lung insufficiency
  • patient care
  • priority journal
  • range of motion
  • rehabilitation care
  • spinal muscular atrophy
  • spine malformation
  • stretching exercise
  • thorax deformity
  • treatment outcome

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