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Mito Disease


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hi madeline -

i wouldn't say that a LOT of people on the forum have mitochondrial disorders. there are only 2-3 people i know of with confirmed diagnoses and then several of us where it's suspected but not for certain.

in short a muscle biopsy is the only definitive positive diagnosis, but it's not definitive for a negative. in other words if the result is positive the diagnosis is for sure but if the result is negative one could still have a mito disease.

but there is a lot of additional testing that can be helpful/informative to a doc who knows what s/he is looking for. there is extensive info regarding testing & diagnosis at http://www.umdf.org (united mitochondrial disease foundation).

additionally here are links to prior discussions on the site regarding mito diagnosis:




hope this helps,

B) melissa

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Madeline, I have been diagnosed with mitochondrial cytopathy based on lab tests and muscle biopsy results. My lab tests showed I had elevated lactic acid levels, elevated CPK (muscle enzyme). Lactic acid is a byproduct of exercise, so it is expected right after doing something like aerobics, jogging, etc. I had a moderate level of lactic acid for no reason. My doctor then ordered a muscle biopsy which showed abnormalities consistent with mitochondrial disease. The links that Sunfish posted are really excellent sites. Do you think you have a mitochondrial disorder?

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HI Hanna! I don't think that I have a mitochondrial problem, but was more curious for seeing it discussed. I have a friend witha mitochondrial disorder but she doesn't like to talk about it, I though this might be a way to learn about it!



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I was diagnosed with a mitochondrial disease by a muslce biopsy. This is the only testing I had for it and I don't know too much about other testing, but I think before the muscle biopsy there are blood tests that can be done to check for elevated lactic acid levels or a special MRI with a spectroscopy. The United Mitochondrial Disease Foundation website that Melissa mentioned is great. It has tons of info for doctors on it too. Here is another good website: http://www.mitoaction.org/definition.html


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