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- Title
Autonomic dysfunction in SCN9A-associated primary erythromelalgia.
- Authors
Kim, Min-Kyeong; Yuk, Ji-Won; Kim, Hyang-Sook; Park, Ki-Jong; Kim, Dae-Seong
- 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.
- Subjects
DYSAUTONOMIA; ERYTHROMELALGIA; GENETIC mutation; EXTREMITIES (Anatomy); AUTONOMIC nervous system
- Publication
Clinical Autonomic Research, 2013, Vol 23, Issue 2, p105
- ISSN
0959-9851
- Publication type
Report
- DOI
10.1007/s10286-012-0181-7