i have had mri and eeg - both clear. A sleep study would be fantastic but the NHS is not that amenable to fancy stuff. Anyway they didn’t find anything. That was for some sleep phenomena a bit like fits or ‘hypnic jerks’ - although the term hypnic jerks so woefully under exaggerates how terrible it was.
That turned out to be too much glutamate which I think was caused by high ammonia poisoning krebs - that is now broadly under control from taking malic acid and/or waiting it out/limiting my protein intake. Still now if I eat a lot of protein it gives me high glutamate and same symptoms - fits tremor eye rolling.
This is because (I think) as much muscles repair urea cycle has problems (also liver is laboured) and build up of ammonia causes a block in krebs at citrate reducing the amount of oxaloacetate that consumes glutamate to form aspartic acid which is needed in Krebs to consume ammonia 🙃. So it gets caught in a deadlo!
HOw is your norepineprhine level? Just to rule out that a sudden dip would do this (i once suddnely felt like was walking in quicksand. was comical like i was in a commercial for the energizer bunny and the battery wore out and he slumped over and stopped beating his drum; i suspected a dip innor epi tho can't now remember why). YOu should be able to get urine norepi levels w/o going to docs. I used to have a place i recommend, but they merged with a crappy company and not sure i trust results now. but even an OAT has some relevent markers for that and if wanted to do it officially, i guess you can ask for 24 urine metenephrines.
not sure if it would last 3 years though continuoulsy rather than stopping and starting (though when iset my legs off triggered by going up stairs too quickly it was a few years until they gradually got more normal- but those werent rigid)
questions though=What did EMG say? you mention mri and eeg but didn't see an emg result
did neuro examine them while rigid- cogwheel rgidity? .
Is there weakness too? and is it constant with each attempt?
and - did you s ay b12 and probiotics helped or made it worse? also, the trigger was NAC or was that just one trigger? and what symptoms does your father have that's similar?
I don't suppose you thave your exome tested? (since you mentioned genetic).
(I know its a pain to answer questions, so if you can't, that's ok, but those were all the things your posts made me wonder and i didn't see answers in comments but will look again)
but what motivated me to respond even more was :hypnic jerks, ammonia, glutimate, krebs, citrate, etc.
when i ate glutimates or tyramines (often hard to distinugish so stil not sure whicy), i would get very bad myoclonic jerks that woke me up first 2 hours of sleep. I don't mean a simple jerk of one leg, but jerks were pretty extreme and dramatic - and would happen over and over again those couple of hours. started out just left side of body though sometimes while chest and shoulders, somettimes head. docs wanted to give me -oh shoot, i fogrget maybe cloz...(to the extent they cared at all) anyway, realiozed i could get rid of them by avoideing chinese food and other ageds foods. That started the aged-free food eating for many years. oddly the effects glutimate and tyramine have on me have changed thtough the years- something i don't understand. so they still cause drama but different.
i too have high ammonia in urine and will reread what you say about that.
did someone mention serine? my serine in urine is too high and i think its a bad sign especially since i was able to trace it to upregulation of the serine synthesis pathway which is tightly regulated so not supposed to happen often.
@Alvin2 You can order from canada the amino acid urine test from great plains lab. they send it to doctors data, but not sure if DD directly will send to canda but great plains will. That will give you the pathways you were intersted in that you commented on.
