Quote:
Originally Posted by rvalen02
Hi,
I fell and hit my head in July 2017. After a few months, I noticed tingling in my head. Beginning in June 2018, the tingling spread to the rest of my body. My forearms would burn and I would get a burning sensation in my head. My feet get especially bad at night with the tingling.
I have every test done imaginable. I had the MRI, CT Scan, blood work, 2 EMGs, skin biopsy.
I have a genetic test completed. It came back with uncertain results. A variant of uncertain significance was found and identified at IGHMBP2. This gene is associated with Charcot-Marie Tooth disease and hereditary motor neuropathy.
Does anyone have any thoughts? Or suggestions on how I should proceed?
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Here is a very interesting paper written about that particular gene and CMT:
Charcot-Marie-Tooth Neuropathy Type 2 - GeneReviews(R) - NCBI Bookshelf
It does discuss treatment which is palliative (treating the symptoms). There are drugs on the horizon that might help with relief (VX-150).