Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

R.S. Finkel, E. Mercuri, O.H. Meyer, A.K. Simonds, M.K. Schroth, R.J. Graham, J. Kirschner, S.T. Iannaccone, T.O. Crawford, S. Woods, F. Muntoni, B. Wirth, J. Montes, M. Main, E.S. Mazzone, M. Vitale, B. Snyder, S. Quijano-Roy, E. Bertini, R.H. DavisY. Qian, T. Sejersen, SMA Care group

Research output: Contribution to journalArticle

Abstract

This is the second half of a two-part document updating the standard of care recommendations for spinal muscular atrophy published in 2007. This part includes updated recommendations on pulmonary management and acute care issues, and topics that have emerged in the last few years such as other organ involvement in the severe forms of spinal muscular atrophy and the role of medications. Ethical issues and the choice of palliative versus supportive care are also addressed. These recommendations are becoming increasingly relevant given recent clinical trials and the prospect that commercially available therapies will likely change the survival and natural history of this disease. © 2017
Original languageEnglish
Pages (from-to)197-207
Number of pages11
JournalNeuromuscular Disorders
Volume28
Issue number3
DOIs
Publication statusPublished - 2018

Fingerprint

Spinal Muscular Atrophy
Ethics
Immunization
Lung
Standard of Care
Clinical Trials
Therapeutics

Keywords

  • bisphosphonic acid derivative
  • calcium
  • dornase alfa
  • glycopyrronium
  • palivizumab
  • salbutamol
  • vitamin D, Article
  • asthma
  • breathing exercise
  • capnometry
  • decision making
  • emergency ward
  • extubation
  • functional residual capacity
  • gastroesophageal reflux
  • gene replacement therapy
  • home care
  • hospital discharge
  • human
  • influenza vaccination
  • Kugelberg Welander disease
  • lung clearance
  • nebulization
  • noninvasive positive pressure ventilation
  • occupational therapy
  • palliative therapy
  • patient care
  • phenotype
  • physiotherapy
  • pneumography
  • positive end expiratory pressure
  • practice guideline
  • preoperative period
  • priority journal
  • pulse oximetry
  • quality of life
  • spinal muscular atrophy type 2
  • treatment outcome
  • Werdnig Hoffmann disease

Cite this

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. / Finkel, R.S.; Mercuri, E.; Meyer, O.H.; Simonds, A.K.; Schroth, M.K.; Graham, R.J.; Kirschner, J.; Iannaccone, S.T.; Crawford, T.O.; Woods, S.; Muntoni, F.; Wirth, B.; Montes, J.; Main, M.; Mazzone, E.S.; Vitale, M.; Snyder, B.; Quijano-Roy, S.; Bertini, E.; Davis, R.H.; Qian, Y.; Sejersen, T.; group, SMA Care.

In: Neuromuscular Disorders, Vol. 28, No. 3, 2018, p. 197-207.

Research output: Contribution to journalArticle

Finkel, RS, Mercuri, E, Meyer, OH, Simonds, AK, Schroth, MK, Graham, RJ, Kirschner, J, Iannaccone, ST, Crawford, TO, Woods, S, Muntoni, F, Wirth, B, Montes, J, Main, M, Mazzone, ES, Vitale, M, Snyder, B, Quijano-Roy, S, Bertini, E, Davis, RH, Qian, Y, Sejersen, T & group, SMAC 2018, 'Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics', Neuromuscular Disorders, vol. 28, no. 3, pp. 197-207. https://doi.org/10.1016/j.nmd.2017.11.004
Finkel, R.S. ; Mercuri, E. ; Meyer, O.H. ; Simonds, A.K. ; Schroth, M.K. ; Graham, R.J. ; Kirschner, J. ; Iannaccone, S.T. ; Crawford, T.O. ; Woods, S. ; Muntoni, F. ; Wirth, B. ; Montes, J. ; Main, M. ; Mazzone, E.S. ; Vitale, M. ; Snyder, B. ; Quijano-Roy, S. ; Bertini, E. ; Davis, R.H. ; Qian, Y. ; Sejersen, T. ; group, SMA Care. / Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. In: Neuromuscular Disorders. 2018 ; Vol. 28, No. 3. pp. 197-207.
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