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Related Experiment Videos

Sudomotor function in familial dysautonomia.

A Bickel1, F B Axelrod, H Marthol

  • 1Department of Neurology, University Erlangen-Nuremberg, Germany.

Journal of Neurology, Neurosurgery, and Psychiatry
|January 27, 2004
PubMed
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Familial dysautonomia (FD) patients exhibit normal sweat gland function but hypersensitive sudomotor fibers. This hypersensitivity may explain excessive sweating in FD, despite reduced nerve fibers.

Area of Science:

  • Autonomic Neuropathy Research
  • Sweat Gland Physiology
  • Clinical Neurophysiology

Background:

  • Familial dysautonomia (FD) is characterized by autonomic neuropathy, often leading to reduced sudomotor fibers and sweat glands.
  • Despite reduced innervation, FD patients experience episodic hyperhidrosis, suggesting an underlying compensatory mechanism.

Purpose of the Study:

  • To investigate peripheral sudomotor nerve fiber and sweat gland function in FD patients.
  • To determine if episodic hyperhidrosis in FD is caused by peripheral denervation hypersensitivity.

Main Methods:

  • Utilized microdialysis to measure transepidermal water loss (TEWL) after acetylcholine application in 14 FD patients and 11 controls.
  • Assessed acetylcholine-induced protein extravasation as a marker of C-fiber function.

Related Experiment Videos

  • Compared microdialysis results with conventional quantitative sudomotor axon reflex testing (QSART).

    • Main Results:

    • No significant differences in direct or axon reflex-mediated sweat responses or protein extravasation between FD patients and controls.
    • FD patients exhibited a higher baseline resting sweat rate compared to controls (p<0.05).
    • TEWL and QSART results showed a significant correlation (r = 0.64, p = 0.01), validating TEWL methodology.

    Conclusions:

    • Normal sweat output in FD patients suggests sudomotor fibers, not sweat glands, develop chemical hypersensitivity.
    • This hypersensitivity may explain excessive sweating episodes linked to increased central sympathetic outflow in FD.
    • The findings highlight a novel mechanism contributing to hyperhidrosis in autonomic neuropathies.