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. Woods & 30 others Y. 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 journalArticle

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

Fingerprint

Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophy
Orthopedics
Rehabilitation
Standard of Care
Live Birth
Motor Neurons
Deglutition
Ethics
Lung
Incidence
Genes

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

Cite this

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. / Mercuri, E.; Finkel, R.S.; Muntoni, F.; Wirth, B.; Montes, J.; Main, M.; Mazzone, E.S.; Vitale, M.; Snyder, B.; Quijano-Roy, S.; Bertini, E.; Davis, R.H.; Meyer, O.H.; Simonds, A.K.; Schroth, M.K.; Graham, R.J.; Kirschner, J.; Iannaccone, S.T.; Crawford, T.O.; Woods, S.; Qian, Y.; Sejersen, T.; Tiziano, F.D.; Tizzano, E.; Topaloglu, H.; Swoboda, K.; Laing, N.; Kayoko, S.; Prior, T.; Chung, W.K.; Wu, S.-M.; Coleman, C.; Gee, R.; Glanzman, A.; Kroksmark, A.-K.; Krosschell, K.; Nelson, L.; Rose, K.; Stępień, A.; Vuillerot, C.; Dubousset, J.; Farrington, D.; Flynn, J.; Halanski, M.; Hasler, C.; Miladi, L.; Reilly, C.; Roye, B.; Yazici, M.; Bertoli, S.

In: Neuromuscular Disorders, Vol. 28, No. 2, 2018, p. 103-115.

Research output: Contribution to journalArticle

Mercuri, E, Finkel, RS, Muntoni, F, Wirth, B, Montes, J, Main, M, Mazzone, ES, Vitale, M, Snyder, B, Quijano-Roy, S, Bertini, E, Davis, RH, Meyer, OH, Simonds, AK, Schroth, MK, Graham, RJ, Kirschner, J, Iannaccone, ST, Crawford, TO, Woods, S, Qian, Y, Sejersen, T, Tiziano, FD, Tizzano, E, Topaloglu, H, Swoboda, K, Laing, N, Kayoko, S, Prior, T, Chung, WK, Wu, S-M, Coleman, C, Gee, R, Glanzman, A, Kroksmark, A-K, Krosschell, K, Nelson, L, Rose, K, Stępień, A, Vuillerot, C, Dubousset, J, Farrington, D, Flynn, J, Halanski, M, Hasler, C, Miladi, L, Reilly, C, Roye, B, Yazici, M & Bertoli, S 2018, 'Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care', Neuromuscular Disorders, vol. 28, no. 2, pp. 103-115. https://doi.org/10.1016/j.nmd.2017.11.005
Mercuri, E. ; Finkel, R.S. ; Muntoni, F. ; Wirth, B. ; Montes, J. ; Main, M. ; Mazzone, E.S. ; Vitale, M. ; Snyder, B. ; Quijano-Roy, S. ; Bertini, E. ; Davis, R.H. ; Meyer, O.H. ; Simonds, A.K. ; Schroth, M.K. ; Graham, R.J. ; Kirschner, J. ; Iannaccone, S.T. ; Crawford, T.O. ; Woods, S. ; Qian, Y. ; Sejersen, T. ; Tiziano, F.D. ; Tizzano, E. ; Topaloglu, H. ; Swoboda, K. ; Laing, N. ; Kayoko, S. ; Prior, T. ; Chung, W.K. ; Wu, S.-M. ; Coleman, C. ; Gee, R. ; Glanzman, A. ; Kroksmark, A.-K. ; Krosschell, K. ; Nelson, L. ; Rose, K. ; Stępień, A. ; Vuillerot, C. ; Dubousset, J. ; Farrington, D. ; Flynn, J. ; Halanski, M. ; Hasler, C. ; Miladi, L. ; Reilly, C. ; Roye, B. ; Yazici, M. ; Bertoli, S. / Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. In: Neuromuscular Disorders. 2018 ; Vol. 28, No. 2. pp. 103-115.
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