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Old 07-09-2013, 12:40 AM #25
nilram nilram is offline
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Join Date: Dec 2007
Location: Oregon
Posts: 72
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nilram nilram is offline
Junior Member
 
Join Date: Dec 2007
Location: Oregon
Posts: 72
15 yr Member
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Interesting to read that some folks have found therapies that are helpful for erythromelalgia. I think that could be what's going on for me. There is now genetic testing available in the US for mutations in the SCN9a gene, which is thought to be behind some erythromelalgia and up to 30% of idiopathic sensory peripheral neuropathy.

More on SCN9a: http://ghr.nlm.nih.gov/gene/SCN9A -- "More than 10 mutations in the SCN9A gene have been found to cause erythromelalgia." and, "Mutations in the SCN9A gene account for approximately 30 percent of cases of small fiber neuropathy."

If you're interested in seeing if your erythromelagia has an identifiable genetic cause, there is now testing for SCN9a mutations available in the US. I have a test kit from Transgenomic (http://www.transgenomic.com/labs/neurology) in Connecticut, and there's also a lab in Atlanta (http://www.medicalneurogenetics.com/) and one in Maryland (http://www.genedx.com/test-catalog/a...ne-sequencing/). It looks like both GeneDX and Transgenomic have departments that work on convincing health insurance to pay for the test.

I'm recognizing more erythromelagia symptoms in myself lately and I've had the "idiopathic small fiber neuropathy" label for about seven years. I'm very interested to see what this genetic test turns up for me. There's been testing available in Europe and Israel for several years now; the testing in the US is new (within the last 6 months). I should start a new thread on this, but I thought I'd let you know that there's testing available if you're interested.
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