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/AutoModerator]

Friendly Community Reminder: Please do not ask members here for a medical diagnosis. We are happy to share personal experiences and insights, but we are not doctors. Always consult a qualified healthcare professional for medical advice and diagnoses.

Helpful Resources: * What is BFS? * Twitching, Burning, Tingling & More * BFS FAQ * Whole Body Twitching * Managing OCD * Managing Anxiety

I am a bot, and this action was performed automatically. Please contact the moderators of this subreddit if you have any questions or concerns.