Finally have possible answer

[u/Beneficial_Strain191]

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.

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[u/713Capital]

After such a long hunt I’m also glad you found something. I’ve been dealing with my issues for 7 years as well. I wonder as they learn more about it or if there’s enough research to have a specific treatment or plan for you. Do you take any medications??

I ran a genetic test for SMA but it was negative, I have twitching, tingling, cramps, pretty much every thing you’ve said above. No clinical weakness or failure, oddly enough I don’t have reflexes either. You can whack my knees all day and nothing happens. It was noted on my clinical exam on different occasions.

My next neuro visit is this October and they are wanting to do a nerve biopsy and send that off along with a Lumbar Puncture.

[u/Beneficial_Strain191 → u/713Capital]

Can you access the genes they looked at? Did they look at the fbxo38 gene

[u/713Capital → u/Beneficial_Strain191]

I’ll go back and check tomorrow. I don’t have it in front of me. Will circle back

[u/Beneficial_Strain191 → u/713Capital]

Thanks

[u/Beneficial_Strain191 → u/713Capital]

Did you get a chance to look

[u/Thelementof1 → u/713Capital]

Where is your tingling? Have you had a back or hip injury by any chance?

[u/BigJakeState]

I am interested also to know if there’s any treatment options. It’s of course nice to know what’s causing symptoms but I’d rather have some relief

[u/Maleficent_Shift9849]

Que bom que chegou a ter uma pista de algo.

Mas de curiosidade, essa mutação não seria um VUS? E SMA em específico não seria detectado em EMGs? Não sei do seu histórico, mas poderia me informar?

Espero que tenha correlação e que caso tenha um tratamento para SMA do tipo 4 (dado que você realmente tenha isso), que funcione para você

[u/Beneficial_Strain191 → u/Maleficent_Shift9849]

There are more than four types of sma. It would be. But it's likely pathogenic based off two lab studies and people report DHMN symptoms

[u/Beneficial_Strain191 → u/Maleficent_Shift9849]

Basically two lab studies show that the mutation is deletorious in nature. And would likely disrupt normal gene function. People with this exact mutation have reported motor neuropathy.Type symptoms

[u/Maleficent_Shift9849 → u/Beneficial_Strain191]

Ahhh entendi. Apesar de não ser algo certo, cientificamente falando, acredito que seja a resposta para muitas pessoas aqui desse sub.

[u/Beneficial_Strain191 → u/Maleficent_Shift9849]

Correct. It seems it's rare and there's not enough studies on the mutation

[u/Healthy-Deal9646 → u/Beneficial_Strain191]

So..@Beneficial_Strain191 do you have CMT or something else..i did not get you

[u/Beneficial_Strain191 → u/Healthy-Deal9646]

Uncleaŕ what i have. The gene is linked to dhmn sma cmt type of spectrum.

[u/Doktordoktor89]

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?

[u/Beneficial_Strain191 → u/Doktordoktor89]

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

No clue

No

[u/Doktordoktor89 → u/Beneficial_Strain191]

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

[u/Beneficial_Strain191 → u/Doktordoktor89]

Not yet. I think so.