Quote:
Originally Posted by Goosiegoo
I think we are very similar!
Hopkins thinks I have an scn9a mutation causing SFN.
I did 23&me and did find a mutation
That can cause increased pain by affecting sodium channels.
My symptoms are bilateral frontal thigh burning sensations and
My toes can burn and turn red if I exercise in the evening in sneakers or before bed. I think it may be caused by erythromelagia or SFN.
Biopsy was done twice 18 mo apart. Most recent test shows my ankle at 29fibers/mm when abnormal is 5.
I have noted that fibers are increased from before by about 50%!
My levels appear to be slightly above normal range
My mom complains of her legs feeling heavy that she related to a mini stroke.
My dad has Parkinson's and my younger sister developed MS ( first cousin too)
A year before my symptoms started.
Any thoughts for me?
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My symptoms are slightly different. I have had Scn9a & 10 but they came back negative. However, the university who have done further genetic testing are saying that there can be variants of these, so they are checking them again. I won't get any results for 3 months. They said the chances of them finding a mutation were about 20%.
I don't have any redness with pain, it does sound a bit like erythromelagia but i'm no expert on here. This is just from what i have read. I know there will be a sodium channel blocker which blocks the scn9a - naV 1.7. This will be out in about 5 years according to the Professor.
05-13-2017, 12:47 PM
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