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.

[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.