Survival of individuals with spinal muscular atrophy on ventilatory support

Am J Phys Med Rehabil. 1994 Jun;73(3):207-11. doi: 10.1097/00002060-199406000-00010.

Abstract

Six ventilator-assisted individuals (VAIs) with spinal muscular atrophy (SMA) are described. All six survived by using intermittent positive pressure ventilation via an indwelling tracheostomy for a mean of 11.7 +/- 17.7 yr despite frequent episodes of mucus plugging and pneumonia. Four of the VAIs also received all nutrition via indwelling gastrostomy tubes because of severe bulbar muscle weakness. Four VAIs used tracheostomy intermittent positive pressure ventilation with their tracheostomy cuffs deflated and could communicate verbally. Five of the six VAIs remained institutionalized from the onset of ventilatory use. Two SMA VAIs survived for 15 and 4 yr, respectively, despite need for ventilatory support since early infancy. All four SMA VAIs who could communicate remained socially active and one, gainfully employed. We conclude that for patients with advanced SMA markedly prolonged survival is possible with ventilatory assistance despite severe respiratory and bulbar muscle dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Activities of Daily Living
  • Adolescent
  • Adult
  • Communication
  • Enteral Nutrition
  • Female
  • Humans
  • Institutionalization
  • Intermittent Positive-Pressure Ventilation*
  • Male
  • Muscular Atrophy, Spinal / mortality*
  • Muscular Atrophy, Spinal / psychology
  • Muscular Atrophy, Spinal / therapy*
  • Socialization
  • Tracheostomy