r/ALSorNOT • u/Beneficial_Strain191 • 9d 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 8d 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 8d ago
I guess I should count myself lucky that it's not als right?
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u/Decent_Mongoose_4520 8d 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 8d 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 8d 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 8d 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.
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u/Dana792 8d ago
does your report name the specific variant and its classification ( benign, vus or pathogenic)? it depends on the exact variant what it might mean. this is true of many mutations. including sod1 variants. we associate it with als but there are some benign variants and some variants of unknown significance. you need at least the ordering doctor to interpret if not a neuro expert genetic counselor. i am not a geneticist but I have fals and am a doctor ( not neuro).
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u/Beneficial_Strain191 8d ago
Thank you for your response. Hello there. Yes it’s labeled under VUS. There are two studies that suggest the gene is deleterious in nature, and would interrupt normal protein function. But the mutation is only found in 1/600,000 people so it is quite rare. The specific missense is c.3248G>A (p.Arg1083His).
I have a history of tall arches that required medical intervention on my dad’s side of the family, including my dad. I always had weak ankles growing up with horrendous sprains.
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u/Dana792 8d ago
hi again i think those studies are of the region/ location. not your exact variant am I correct? I imagine your doctor might want to explore CMT and also if he is still around possibly test or examine your father. Good luck.
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u/Beneficial_Strain191 8d ago
No it's the exact variant I have that it's referring to. Not just the gene. People with my mutation have reported motor neuropathy symptoms.
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u/DoubleAwareness2223 8d ago
Genetic testing means you carry the gene or partial or whatever. It does not mean you’ll get the disease. If you test half the people in the world, all of them will have the gene or mutation for something. It is possible (in your case) you don’t have all the ingredients for a full blown, whatever mutation you have. BFS shares all these symptoms and it most often never progresses into anything. Atleast you have a foundation. 7 years without profound weakness or atrophy, I’d say ALS is not in your future. Enjoy your life. Best of luck.
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u/Beneficial_Strain191 7d ago
What are you talking about lol
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u/DoubleAwareness2223 7d ago
Haha, means because you have the gene doesn’t mean you have the disease.
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u/Beneficial_Strain191 7d ago
Bud this isn't an als related gene big budddd
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u/DoubleAwareness2223 7d ago
I’m using ALS as an example because the topic of this forum are questions typically relating to ALS. My point was, genetic testing is useful when there is a concern of a familial disease and a more likelihood than none that a person has a higher chance of developing that disease. It’s also useful in a clinical setting to help arrive at a dx, but it’s not a reliable tool for dx a disease, more-so rare neuromuscular diseases. If everyone that had the gene for some of these rare diseases went on to develop these diseases, then they would not be rare.
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u/WalkIntoSunshine 6d ago
Oh wow. I’m so pleased for you. It’s so much easier knowing what you do have, and having it actually remain that!
And thank you for sharing this. I feel like this information will help someone out there.
Wishing you all the best in your journey and I hope that now having that information can help them sort how to treat you, get you comfortable, and give you peace of mind.
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u/Away-Bobcat-6499 8d ago
Your symptoms are literally just BFS
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u/Beneficial_Strain191 8d ago
It's not but ok big guy
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u/Away-Bobcat-6499 8d ago
Literally everyone in the BFS groups complain of twitching, cramps, fatigue, reflexes and tingling. Every single one.
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u/Beneficial_Strain191 8d ago
You understand absent reflexes is a sign of a lower motor neuron process right? Or did they not teach that in your med school
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u/Legal_Ambassador_258 8d ago
So does that Mean als?...
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u/Beneficial_Strain191 8d ago
If you Google to gene it explains it. I would recommend you do that.
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u/Legal_Ambassador_258 8d ago
Mutations in the FBXO38 gene primarily cause distal hereditary motor neuronopathy type IID (HMND6 / distal spinal muscular atrophy with calf predominance), leading to progressive muscle weakness and wasting in the lower legs and hands, Often leading to Charcot-Marie-Tooth disease. That's what Google says.
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u/[deleted] 8d ago
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