Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1

J Clin Neuromuscul Dis. 2017 Dec;19(2):76-79. doi: 10.1097/CND.0000000000000184.


Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disease due to mutation in the Cytokine receptor-like factor 1 (CRLF1). The characteristic symptom of CISS is the tendency to sweat profusely especially in the upper body and hands when the patient is exposed to cold temperature. We sought to first report the findings of autonomic reflex screen in a case of CISS type 1 with Cytokine receptor-like factor 1 mutation. Valsalva morphology, Valsalva ratio, and heart rate response to deep breathing were normal for the patient's age. Quantitative sudomotor axon reflex test showed nonlength dependent decrease in the sweat volume. Tilt table revealed evidence of reflex (vasovagal) "syncope," however, the patient was asymptomatic without loss of consciousness.

Publication types

  • Case Reports

MeSH terms

  • Autonomic Nervous System / physiopathology*
  • Clonidine / therapeutic use
  • Death, Sudden
  • Facies
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / drug therapy
  • Hand Deformities, Congenital / physiopathology*
  • Heart Rate / physiology
  • Humans
  • Hyperhidrosis / diagnosis*
  • Hyperhidrosis / drug therapy
  • Hyperhidrosis / physiopathology*
  • Male
  • Neural Conduction / physiology
  • Reflex / physiology*
  • Sympatholytics / therapeutic use
  • Trismus / congenital*
  • Trismus / diagnosis
  • Trismus / drug therapy
  • Trismus / physiopathology
  • Valsalva Maneuver / physiology
  • Young Adult


  • Sympatholytics
  • Clonidine

Supplementary concepts

  • Crisponi syndrome