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Neuropathy in feet and limited toe movement?

Neuropathy | Last Active: May 27 3:51pm | Replies (151)

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@mjpm2406

PN runs in my family and I was told it was HSN it HSPN or the Anglo-Saxon disease as my family was from southern England. Same symptoms as yours. Pins and needles in my lower extremities, spasms, no feeling in my toes, inability to bend toes, etc. I just had a neuropathy panel done at Stony Brook Neurology. Simple saliva test that looks at 83 known genes that cause neuropathy. Results came back yesterday. I have CMT4 based on a positive SBF2 Gene mutation. I also have SMA or Spinal Muscular Atrophy based on a positive SMN1 mutation (entire coding sequence deleted). This one really sucks. I also have Giant Axonal Neuropathy based on a positive GAN Gene mutation. I also tested positive for the SLC52A3 Gene mutation. Not sure what that means yet. Need to do more research. I'll be meeting with the neurologist in September to get a clear understanding of what this all means and what treatments, if any, exists. I have MDS/MPN-RS-T which is an extremely rare blood cancer. So now I have four extremely rare diseases. Gotta love it.

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Replies to "PN runs in my family and I was told it was HSN it HSPN or the..."

@mjpm2406 you lost me in the alphabet soup, but I like your spirit, as well as your can do attitude to even get this done. I have not heard prior to this of anyone doing having this type of testing done for neuropathy but it sounds very interesting to be able to pinpoint the genetic markers for this type of illness. Thanks for the post! Hope you follow it up after you learn more. Best, Hank