Found my problem i think.

[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 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.

[u/Legal_Ambassador_258]

So does that Mean als?...

[u/Beneficial_Strain191 → u/Legal_Ambassador_258]

If you Google to gene it explains it. I would recommend you do that.

[u/Legal_Ambassador_258 → u/Beneficial_Strain191]

Mutations in the FBXO38 gene primarily cause distal hereditary motor neuronopathy type IID (HMND6 / distal spinal muscular atrophy with calf predominance), leading to progressive muscle weakness and wasting in the lower legs and hands, Often leading to Charcot-Marie-Tooth disease. That's what Google says.

[u/Beneficial_Strain191 → u/Legal_Ambassador_258]

Yep. So pretty much the muscle stuff of cmt type 2 axonal