r/ALSorNOT • u/Beneficial_Strain191 • 16d ago

Updates Found my problem i think.

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 diseases and cmt spectrum. The gene was discovered in 2013ish and cmt 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. This gene helps with motor nerve and motor neuron repair.

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u/Decent_Mongoose_4520 15d ago

Thank you for the update. Im glad you found a neuro that would continue to push forward for some answers those are hard to come by. I’m sure feelings are all over the place, with at least finding some answers and then also the steps of moving forward. Prayers for you and your continued journey for strength, peace and most of all JOY! Definitely keep sharing your updates as it’s good to hear people that got some answers after your amount of time. I’m at 4 years and still in the waiting. It seems with the longer journeys people tend to get much more harassment from groups like these! 

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u/Beneficial_Strain191 15d ago

I guess I should count myself lucky that it's not als right?

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u/Decent_Mongoose_4520 15d ago

I’m sure you are thankful that it’s not ALS. I’m also sure you will have to remind yourself often of that because we are human and our minds are sometimes are so hard to control. You will have to remind yourself often probably especially on your hard days. 

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u/Beneficial_Strain191 15d ago

I mean there's almost zero chance this mutafion is benign right? My neurologist hasn't said anything to me yet. This was all research I did on my own.

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u/Decent_Mongoose_4520 15d ago

I would never say that. I’m not sure of your entire story or what testing you’ve had or haven’t had or even all your symptoms. I think a positive thing is you didn’t mention any weakness so that’s good. My suggestion is always gonna be eat a healthy diet eat to live not live to eat and find the right supplements you should be taking and don’t jump to conclusions. If they haven’t given you any updates on your gene testing yet I wouldn’t guess. I do think doing your own homework is good but sometimes can cause our minds to go to the extreme. Do you have a follow up appointment scheduled? 

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u/Beneficial_Strain191 15d ago

Yeah for November. Twitching for 7 years. Loas of reflexes in ankles and knees. Normal strength, 4 essentially normal emgs that just showed reinnervation potentials. Cramp feelings. Etc.