Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival

Brain Dev. 2005 Dec;27(8):574-8. doi: 10.1016/j.braindev.2005.02.009.


In Japan, quite a few patients with spinal muscular atrophy type 1 (SMA type 1) survive with mechanical ventilation. Since a patient with SMA type 1 and continuous artificial ventilation exhibited excessive perspiration and tachycardia, we examined the autonomic functions in three cases of SMA type 1, undergoing mechanical ventilation. Two cases exhibited the common sympathetic-vagal imbalance on R-R interval analysis involving 24-h Holter ECG recordings in addition to an abnormality in finger cold-induced vasodilatation. Furthermore, one case showed blood pressure and heart rate fluctuation with the paroxysmal elevation, and a high plasma concentration of norepinephrine during tachycardia. These findings suggest that autonomic dysfunction should be examined in SMA type 1 patients with long survival, although the pathogenesis remains to be clarified.

Publication types

  • Case Reports

MeSH terms

  • Autonomic Nervous System / physiopathology*
  • Blood Pressure
  • Child
  • Electrocardiography, Ambulatory
  • Female
  • Heart / diagnostic imaging
  • Heart / innervation
  • Heart Rate
  • Humans
  • Male
  • Norepinephrine / blood
  • Spinal Muscular Atrophies of Childhood / blood
  • Spinal Muscular Atrophies of Childhood / physiopathology*
  • Tachycardia / blood
  • Tomography, Emission-Computed, Single-Photon
  • Vasodilation


  • Norepinephrine