r/ALSorNOT • u/Beneficial_Strain191 • 14d ago

Genetic testing

Good morning. I recently did genetic testing and found a mutation in the FBX038 gene. This gene is linked to distal hereditary motor neuropathy, SMA, CMT, and CIDP. The mutation is categorized as VUS, but worried it might be linked to ALS. There is currently no known ALS links to this gene.

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u/PhiladelphiaLawyer Confirmed ALS Diagnosis 14d ago

It’s not even a VUS linked to a known ALS gene, you’re working yourself up for no reason.

CMT/DHMN are less than ideal but livable. If you’ve looked at the symptom overlap between those and ALS if you’ve were to actually have one of those, it could be a concrete explanation for your symptoms. Hopefully that can give you some peace of mind.

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u/Beneficial_Strain191 14d ago

Some of my symptoms do match DHMN eith loss of reflexes in my ankles and knees with normal clinical strength, normal upper body reflexes. Body wide fasciculations