The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against

Paediatr Respir Rev. 2008 Mar;9(1):51-4; discussion 55-6. doi: 10.1016/j.prrv.2007.10.002. Epub 2008 Feb 1.

Abstract

Spinal muscular atrophy (SMA) is a relatively common, profoundly disabling and incurable disease that presents in early childhood with hypotonia, weakness and decreased movement. Without ventilatory support, premature death from respiratory insufficiency is universal in children with spinal muscular atrophy type 1 (SMA1). With mechanical ventilation, however, long-term survival in SMA1 has been reported from numerous international centres. Children kept alive by this means experience progressive paralysis and eventually become effectively 'locked in' on the ventilator, with no useful movements of the extremities, progressive facial and bulbar weakness, and complete inability to communicate. Prolongation of life by invasive ventilation in such cases is futile given the absence of curative treatments for infants with SMA1, and overly burdensome given the unacceptable quality of life of such children.

Publication types

  • Comment
  • Review

MeSH terms

  • Child
  • Humans
  • Life Support Care / ethics*
  • Life Support Care / legislation & jurisprudence
  • Quality of Life
  • Respiration, Artificial*
  • Spinal Muscular Atrophies of Childhood / diagnosis
  • Spinal Muscular Atrophies of Childhood / etiology
  • Spinal Muscular Atrophies of Childhood / therapy*