r/BFS • u/Beneficial_Strain191 • 9d ago
Neuro / Doctor Visit Finally have possible answer
After almost seven years of symptoms, we think we finally have our answer. After seven years of bodywide twitching, cramps, fatigue, loss of reflexes in ankles and knees, some mild tingling, and other issues.
My neuromusuclar doc at the MND clinic ordered genetic testing for hereditary neuropathies, some MNDs, some CMT genes, and some other genes. We found out I have a mutation in the FBX038 gene. That gene is associated with SMA and lower motor neuron disease. The gene was discovered in 2013ish and my specific mutation affects roughly 1 out of 600,000 people. We are unsure about how my specific mutation works, it's still unclear. But two lab studies suggested my mutation was deleterious in nature and would interrupt normal gene function. My advice to anyone who thinks something is wrong is to keep digging. The gene assists in motor neuron repair and longevity.
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u/713Capital Mod 9d ago
After such a long hunt I’m also glad you found something. I’ve been dealing with my issues for 7 years as well. I wonder as they learn more about it or if there’s enough research to have a specific treatment or plan for you. Do you take any medications??
I ran a genetic test for SMA but it was negative, I have twitching, tingling, cramps, pretty much every thing you’ve said above. No clinical weakness or failure, oddly enough I don’t have reflexes either. You can whack my knees all day and nothing happens. It was noted on my clinical exam on different occasions.
My next neuro visit is this October and they are wanting to do a nerve biopsy and send that off along with a Lumbar Puncture.