Another interesting source linked from the NIH site on MELAS:
http://neuromuscular.wustl.edu/mitosyn.html#melas
So it would be pretty normal that I don't have family members with it. Though aunts and uncles might have few or mild symptoms. They definitely do have some various things going on ... but nothing major. One very young cousin has an eye problem which seems to also be present in MELAS.
Heteroplasmy is the degree of distribution of the mutation in tissues. This can increase over time, until there's enough of the mutant mitochondria present to cause a lot of problems.
My mutation is on MT-ND1. It's also associated with adult-onset dystonia. Mutations on this gene seem to be a rarer cause of MELAS, with about 80% of cases coming from a single mutation on a different mitochondrial gene.
My first episode of headache and vomiting was at age 11. Though progression seems to have been very slow, up until onset of chronic ME symptoms at age 32.
These would be stroke-like episodes, possibly presenting like migraines, not proper strokes. I had the hemiplegia, as mentioned in a previous post. Also my trigger for migraines was MSG/E621, which is an excitatory neurotransmitter. First episode at 11 happened after I started eating ramen noodle packets with a lot of MSG. Episode with hemiplegia happened when avoiding MSG but not realizing it was in the foods I was eating under a different label.
The basal ganglia thing is also interesting - hasn't that been found in some autopsies of ME patients?
Pretty familiar list of symptoms, except the eye stuff. I'm interested to find more about what the myopathy entails, however, since that's a very vague term. As well as how the exercise intolerance presents.
Yes to ataxia, distal mild numbness in feet primarily. I think tendon reflexes were reduced on one side during my hemiplegia, but I should dig out my old records to find out. Fasting glucose definitely high!
Headaches and ataxia.
A hearing test a few years ago did show that I don't hear a certain deep tone, but otherwise I'm fine. Eye sight is pretty bad, though mostly in a normal way as far as I know. I do see mildly splotchy shadows, but I think that's been since getting ME symptoms.
Heart checked out fine a few years ago, and I've only had any hypertension at diabetes onset, when I was very hyperglycemic at first. I've also had sialoadenitis a couple times in the past year or two, which is the obstruction of the salivary gland. Renal system seems fine, and thyroid, etc.
Lipoma - maybe. Lumps on the bottom of each foot in exactly the same location, starting in the past year or two, and a lump floating around next to my spine starting a few months ago. Atopic dermatitis - yes
That life span is why I'm really hoping it isn't MELAS. Anesthesia reaction is interesting, since a lot of ME patients have problems with that.
I think I tried arginine before, with no noticable impact. But if it only helps during episodes, that could be why. Will look into citrulline.
Lactic acidosis seems likely based on symptoms. A lab result from 2012 showed low CO2 and high anion gap results, though it didn't list ranges so I'm not sure. I don't think creatine kinase (CK) has been tested, at least not recently. EEG - not sure. Last MRI was in 2006, 5 years before ME onset. No lesions where mentioned.
Muscle biopsy is probably the best diagnostic option.