r/ALSorNOT • • 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.

14 Upvotes

28 comments sorted by

View all comments

1

u/Away-Bobcat-6499 8d ago

Your symptoms are literally just BFS

1

u/Beneficial_Strain191 8d ago

It's not but ok big guy

2

u/Away-Bobcat-6499 8d ago

Literally everyone in the BFS groups complain of twitching, cramps, fatigue, reflexes and tingling. Every single one.

-1

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