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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Erythromelalgia


Other Names for this Disease

  • Mitchell disease (formerly)
  • Primary erythermalgia
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Cause

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What causes erythromelalgia?

About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family.[1]

In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified.[2]
Last updated: 12/12/2013

References
  1. Erythromelalgia. Genetics Home Reference. November, 2012; http://ghr.nlm.nih.gov/condition=erythromelalgia. Accessed 12/11/2013.
  2. Erythromelalgia. NORD. January 19, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/245/viewAbstract. Accessed 12/12/2013.


Other Names for this Disease
  • Mitchell disease (formerly)
  • Primary erythermalgia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.