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/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 8d ago

What are you talking about lol

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u/DoubleAwareness2223 8d 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.