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Clinical Autonomic Research
Published in: Clinical Autonomic Research 2/2013

01-04-2013 | Case Report

Autonomic dysfunction in SCN9A-associated primary erythromelalgia

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

Published in: Clinical Autonomic Research | Issue 2/2013

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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.
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Yang Y, Wang Y, Li S, Xu Z, Li H, Ma L et al (2004) Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet 41:171–174PubMedCrossRef
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Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L et al (2005) Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain 128:1847–1854PubMedCrossRef
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Metadata
Title
Autonomic dysfunction in SCN9A-associated primary erythromelalgia
Authors
Min-Kyeong Kim
Ji-Won Yuk
Hyang-Sook Kim
Ki-Jong Park
Dae-Seong Kim
Publication date
01-04-2013
Publisher
Springer-Verlag
Published in
Clinical Autonomic Research / Issue 2/2013
Print ISSN: 0959-9851
Electronic ISSN: 1619-1560
DOI
https://doi.org/10.1007/s10286-012-0181-7

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