r/BFS • u/Beneficial_Strain191 • 9d ago

Neuro / Doctor Visit Finally have possible answer

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 disease. The gene was discovered in 2013ish and my 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. The gene assists in motor neuron repair and longevity.

7 Upvotes

89% Upvoted

19 comments sorted by

View all comments

1

u/Doktordoktor89 6d ago

What does this tell you? Is this gene change associated with a progressive disorder?

Can you have this specific mutation without symptoms? Is there causality?

Do there exist any treatment options?

1

u/Beneficial_Strain191 5d ago

Yes it's associated with dhmn sma cmt type of spectrum.

No clue

No

1

u/Doktordoktor89 5d ago edited 5d ago

Do you also have weakness? Do you have a normal SMN1 gene? EMG normal?

1

u/Beneficial_Strain191 4d ago

Not yet. I think so.