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Disorders of the Autonomic Nervous System

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Related Experiment Video

Updated: May 16, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Autonomic dysfunction in SCN9A-associated primary erythromelalgia.

Min-Kyeong Kim1, Ji-Won Yuk, Hyang-Sook Kim

  • 1Pusan National University School of Medicine, Pusan, Republic of Korea.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society
|November 16, 2012
PubMed
Summary

Primary erythromelalgia, a genetic disorder causing burning pain, can involve mild autonomic dysfunction. This case study highlights a patient with a SCN9A mutation experiencing this rare condition.

Related Experiment Videos

Last Updated: May 16, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Area of Science:

  • Genetics
  • Neurology
  • Dermatology

Background:

  • Primary erythromelalgia (EM) is an inherited condition linked to SCN9A gene mutations.
  • It presents with intense burning pain and redness in extremities, often triggered by heat.

Observation:

  • A 49-year-old male diagnosed with primary EM due to a specific SCN9A mutation (p.F216S) was studied.
  • Autonomic reflex screening was performed as part of the diagnostic process.

Findings:

  • The patient exhibited a mild sudomotor dysfunction, indicating impaired sweat gland function.
  • This suggests a potential link between SCN9A mutations and autonomic nervous system involvement in EM.

Implications:

  • This finding expands the understanding of primary erythromelalgia's clinical spectrum.
  • It suggests that autonomic testing may be beneficial in evaluating patients with EM.
  • Further research could explore the mechanisms connecting SCN9A mutations to sudomotor deficits.