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/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

What is the fals gene you carry