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Mitochondrial dysfunction vs. mitochondrial disease

I was just diagnosed today with disorder of mitochondrial metabolism or as my provider refers to it as Mitochondrial dysfunction. He specified that I did not have mitochondrial disease but mitochondrial dysfunction. Could someone explain to me the difference? He has put me on a ton of supplements, and is sending genetic testing off too. What should I expect from the genetic testing also? What are they looking for? Thanks so much!
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Avatar universal
How are you doing now?  Thank you.
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Avatar universal
How are you doing now?  Thank you.
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Avatar universal
How are you both doing now?  I am just starting this mitochondrial journey.  I have been debilitated for three years.
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Thank you so much for responding to my post! I never got an e-mail letting me know anyone wrote back so this is the first time I saw your response. It has been a huge help! My husband and I have been so frustrated the last couple of months with the drs not giving us any answers. They gave me the supplements and said don't worry about nutrition, and that I could follow up with my PCP. Getting answers since then has been awful. My PCP has never had a patient with a mito disorder, and keeps referring me back to the neurologist. The neurologist said it didn't matter where I got my supplements and to look at my disorder as an annoyance. In addition he put me on celebrex for my body pain and gabapentin for my head pain. With my supplements and pain medication I am able to go to work full time. But if I exercise where I get my heart rate even slightly up (120+) I will be in pain for up to a week. In addition I have noticed my hands shaking on occasion. The tests they sent off that I thought were looking at genetics were looking at mitochondrial enzymes, and only looked at three areas. They came back normal. I am insisting on going to a genetic counselor, however the dr has not responded to my e-mails. His nurse referred me to the MDA for help, and proceeded to say there is no difference between a disorder and  mitochondrial disease How long did it take for your disorder to get worse? What signs did you notice that you were getting worse? I would love to find a clinic that specializes in this area. Any suggestions? You had asked to look at my biopsy and EMG. I have included the results below.
My biopsy read
Final Pathologic Diagnosis:
Skeletal muscle, right quadriceps, biopsy:
     - Mild mitochondrial changes (See comment)
     - Mild chronic denervation atrophy
     - Type 2 fiber atrophy (See comment)
      
Comment:  The mitochondrial changes are mild and non-specific (mildly
enlarged, abnormal shapes) and on their own are insufficient for a
diagnosis of mitochondrial cytopathy.  Type 2 fiber atrophy is nonspecific and can be seen with chronic corticosteroid administration, muscle disuse, endocrinopathies, and other processes.
Histology
Tissue preservation good
Myofiber size : Variable:     20-90 microns
Additional dimensions:   Most fibers are 40-60  microns
No increase in internalized nuclei
Angular atrophic myofibers
Comment(s):    Mildly angular
Inflammation: No inflammation present
Cytoplasmic body
Comment(s):    A single fiber contains multiple cytoplasmic bodies.
There is no muscle fiber necrosis or phagocytosis and regenerating fibers are not seen.  There is no endomysial fibrosis.
Histochemistry
Trichome: Unremarkable with no ragged red fibers, nemaline rods or rimmed
vacuoles
NADH:     Target/targetoid fibers
Comment(s):    Fibers with central diminution of staining, almost
exclusively type 2 fibers.
SDH: Increased mitochondria
Comment(s):    A few scattered fibers have subsarcolemmal crescents or
punctate regions of SDH positivity.
ATPase (pH 9.4 and pH 4.5):   Selective type 2 fiber atrophy
Fiber type grouping
Comment(s):    Most atrophic fibers are angular or polygonal type 2 fibers with only very occasional angular type 1 fibers and occasional polygonal type 1 fibers.  There are small fiber type groups, consistent with denervation followed by reinnervation.
Cytochrome Oxidase: Normal
Comment(s):    Rare fibers with subsarcolemmal crescents of increased staining.
PAS: Normal glycogen content and distribution
PAS-D:    Digested by diastase
Oil-Red-O:     Increased lipid content in Type 1 fibers
Acid Phosphatase:   Unremarkable subsarcolemmal
Alkaline Phosphatase:    Unremarkable vascular labeling
Non-specific Esterase:   Unremarkable
Myophosphorylase:   Present
Myoadenylate Deaminase:  Present
Electron Microscopy
Thick Sections:     No abnormal subsarcolemmal deposits
No vacuolation
Vasculature appears unremarkable
One micron thick plastic sections are stained with toluidine blue.
Longitudinal and cross sections are examined.  Occasional longitudinally oriented fibers with mildly disrupted myofibrillary architecture (misalignment of the sarcomeres) are noted.  A representative section is stained with PAS revealing occasional fibers with small subsarcolemmal accumulations of PAS positive material, probably within normal limits.
Thin Sections: Ultrathin sections are viewed under the electron microscope.
Both longitudinal and cross sections are examined.  There are a few small subsarcolemmal accumulations of mitochondria, often also associated with lipid droplets.  Some mitocondria are mildly enlarged and some have irregular shapes.  Most are normally placed adjacent to the I bands.  No paracrystalline inclusions are identified.  Overall, mitochondria are not increased in number.  Sections stained with tannic acid show that rare fibers contain increased non-m embrane bound intermyofibrillary glycogen. Most fibers have normal amounts of glycogen.  No membrane bound glycogen is
identified.  There are modest amounts of glycogen associated with the
aggregates of mitochondria and lipid.  The myofibrillary structures are
normal and there are no abnormal accumulations of filaments.  Plasma
membranes and basal laminae are intact.  Blood vessels are normal.

My EMG read

There were no definite signs of myopathy however, there was evidence of membrane irritablity in 2 muscle samples. Unclear significance.


You had mentioned that certain brands work better than others and are more accessible for your cells. Which brands do you use?

Thank you so much for your help, just the little bit you wrote has taught me more than any of the drs I have spoken with.

Thank you!
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Avatar universal
Hi, I had been a mito patient for over two years (now this diagnosis was doubted by a mitochondrial disease expert at Columbia University, so I am back to testing). I hope, a neurologist will give you a more detailed explanation at the Expert forum (I saw your post there), but just for starters: 1) I have read a lot about mitochondrial disease (I am a scientist myself) and saw a lot of doctors, too. I have never heard of a "mitochondrial dysfunction, but NOT a mitochondrial disease". What your doctor probably means is that he wants to see whether you have a certain type of mitochondrial disease (from the genetic testing). Until he has an answer, he does not want to put a name on it. Genetic testing is done only for a few types of mito diseases, but there are tons of variations. Negative genetic testing results mean only that you do not have those certain types. I had negative genetic testing, so my doc called it a "mitochondrial disorder" when it was mild, and now, as it is not mild anymore, he calls it "mitochondrial myopathy" (he still thinks I have it). 2) What exactly did your biopsy read? What did they find at EMG? (if you do not mind answering) 3) Looks like your doctor put you on a standard list of mito supplements. Unfortunately, they are not real medications (none exist for mito diseases), so the results will probably seem modest to you. The other fact - they are known to start working only after a few months, so do not expect quick results. Though I had a great relief from fatigue almost immediately (but I was taking NADH, not just B-vitamins). The different doctors' opinions differ on what supplements to take, except for L-carnitine and Q10, which everybody prescribes. It is very important where to buy the supplements, as some of them are produced in a way much better accessible for your cells (and providing more energy) than the others. I hope, your Dr advised you on that. 4) There is a great website of the United Mitochondrial Disease Foundation http://www.umdf.org/. You can find all the information you need, including the genetic testing and inheritance. Only skip the scary part about severe disabilities :-) b/c they appear almost exclusively in childhood cases, people with adult onset have very different mito disease (on that website, you can find a paper by Dr. Cohen about adult-onset disease).
Good luck, I hope the treatment will work and  improve your life.
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