Autonomic dysfunction in SCN9A-associated primary erythromelalgia

Min-Kyeong Kim; Ji-Won Yuk; Hyang-Sook Kim; Ki-Jong Park; Dae-Seong Kim

doi:10.1007/s10286-012-0181-7

Autonomic dysfunction in SCN9A-associated primary erythromelalgia

Clin Auton Res. 2013 Apr;23(2):105-7. doi: 10.1007/s10286-012-0181-7. Epub 2012 Nov 15.

Authors

Min-Kyeong Kim¹, Ji-Won Yuk, Hyang-Sook Kim, Ki-Jong Park, Dae-Seong Kim

Affiliation

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

PMID: 23152140
DOI: 10.1007/s10286-012-0181-7

Abstract

Primary erythromelalgia (EM) is an autosomal dominant disorder caused by mutations of SCN9A. It is clinically characterized by reddish discoloration and episodic burning sensation of distal extremities triggered by warmth. We report a 49-year-old male with primary EM caused by SCN9A mutation (p.F216S), in whom an autonomic reflex screening test revealed a mild sudomotor dysfunction.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Autonomic Nervous System Diseases / complications*
Autonomic Nervous System Diseases / genetics*
Base Sequence
Erythromelalgia / complications*
Erythromelalgia / genetics*
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation, Missense
NAV1.7 Voltage-Gated Sodium Channel / genetics*
Pedigree

Substances

NAV1.7 Voltage-Gated Sodium Channel
SCN9A protein, human