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Mitochondrial myopathy presenting as fibromyalgia: a case report (sounds like ME/CFS)

Discussion in 'Fibromyalgia' started by Dolphin, Feb 20, 2012.

  1. Dolphin

    Dolphin Senior Member

    Free full text:

    *I've given each sentence its own paragraph
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  2. Dolphin

    Dolphin Senior Member

    The patient had more symptoms than those given in the abstract

    The patient had more symptoms than those given in the abstract.

    I think she could have been given a diagnosis of ME, ME/CFS, or CFS along with, or instead of, Fibromyalgia by another doctor.
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  3. Dolphin

    Dolphin Senior Member

    Anyone know the normal range for CK on tests in your country?

    This person had:
    But Wikipedia gives a range of 60 to 400.

    Would a value that was slightly high always be followed up?

    I know I have benefited from L-Carnitine (3000mg/day) (from seeing the effect from stopping it).
    I've never tried Creatine. I've taken CoQ10 but never at the level even close to 800mg/day.

    Not sure I've ever heard of anyone having the mitochondrial tests mentioned.


    Units seem to be universal for CK i.e.

    To measure CK levels, a blood sample is taken and separated into fractions that contain cells and a fraction that doesn't - the serum. The amount of CK in the serum is reported in units (U) of enzyme activity per liter (L) of serum. In a healthy adult, the serum CK level varies with a number of factors (gender, race and activity), but normal range is 22 to 198 U/L (units per liter).

    I wonder if you were pacing yourself with ME, or being relatively inactive, would that leave one's CK level lower than it might otherwise be (and hence an abnormal result wouldn't show up)?
  4. Dolphin

    Dolphin Senior Member

    Somebody from the US has asked me (elsewhere):
    If anyone has suggestions that I could send as a reply, feel free to PM me.
  5. Dolphin

    Dolphin Senior Member

    Can a metabolic myopathy = Mitochondrial myopathy (or vice versa)?

    This study found a higher rate of lactate following exercise in a group of PVFS patients who had enterovirus RNA. Could they be like the patient in this study?

    Free full text: html

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  6. Valentijn

    Valentijn Senior Member

    Agreed ... I didn't think exercise intolerance was an aspect of FM, and that light exercise is usually recommended for them to help with pain. Maybe she and/or the doc went with the FM diagnosis because the US definition of CFS is so bad and ME doesn't really exist there. Might have been an insurance or disability related decision as well.
  7. SOC

    SOC Senior Member

    I have to agree on this. My PCP really wanted to diagnose me with FM rather than CFS but I don't have the tenderpoints, so he wrote "FM, CFS, or other connective tissue disease that has not shown up". He told me it was CFS, though.

    Plenty of US doctors "don't believe in CFS" and won't give the diagnosis, so FM is used as an "acceptable" substitute, especially if pain is a big issue.
  8. Mark

    Mark Former CEO

    Sofa, UK
    Very interesting: the successful treatment:

    "a compound of coenzyme Q10 (ubiquinone) 200mg, creatine 1000mg, carnitine 200mg and folic acid 1mg to be taken four times a day."

    ...looks to me like a pretty standard cocktail in many physicians' approach to treating ME/CFS, and all of these were present in what I was prescribed by Dr Myhill's colleague (together with B12 and various vitamin supplements); that treatment got me back on my feet as well...
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  9. Firestormm


    Cornwall England
    Interesting...Thanks to WD :cool:

    Journal of Medical Case Reports

    Mitochondrial myopathy presenting as fibromyalgia: a case report

    Mishal Abdullah, Sahana Vishwanath, Amro Elbalkhi and Julian L Ambrus

    Full paper open access:

    Received: 21 October 2011 Accepted: 10 February 2012 Published: 10 February 2012



    To the best of our knowledge, we describe for the first time the case of a woman who met the diagnostic criteria for fibromyalgia, did not respond to therapy for that disorder, and was subsequently diagnosed by biochemical and genetic studies with a mitochondrial myopathy.

    Treatment of the mitochondrial myopathy resulted in resolution of symptoms. This case demonstrates that mitochondrial myopathy may present in an adult with a symptom complex consistent with fibromyalgia.

    Case presentation

    Our patient was a 41-year-old Caucasian woman with symptoms of fatigue, exercise intolerance, headache, and multiple trigger points.

    Treatment for fibromyalgia with a wide spectrum of medications including non-steroidal anti-inflammatory drugs, antidepressants, gabapentin and pregabalin had no impact on her symptoms.

    A six-minute walk study demonstrated an elevated lactic acid level (5 mmol/L; normal < 2 mmol/L). Biochemical and genetic studies from a muscle biopsy revealed a mitochondrial myopathy.

    Our patient was started on a compound of coenzyme Q10 (ubiquinone) 200 mg, creatine 1000 mg, carnitine 200 mg and folic acid 1 mg to be taken four times a day. She gradually showed significant improvement in her symptoms over a course of several months.


    This case demonstrates that adults diagnosed with fibromyalgia may have their symptom complex related to an adult onset mitochondrial myopathy.

    This is an important finding since treatment of mitochondrial myopathy resulted in resolution of symptoms.

    [Have skipped a bit]


    Mitochondrial myopathies are disorders characterized by morphological abnormalities of muscle mitochondria. Accumulating evidence suggests that mitochondrial disorders are among the most common inherited metabolic diseases [10]. Similar to fibromyalgia, patients may present with muscle weakness, pain, fatigue and exercise intolerance that progressively worsens over time.

    Several steps are involved in Adenosine-5'-triphosphate (ATP) generation in the mitochondria, and defects in any part of the cycle may impair energy production leading to symptoms [11]. These abnormalities in generation and utilization of ATP can be assessed by specific tests, which as in our patient pointed towards problems in energy metabolism [12].

    Genetic testing with sequencing of the mitochondrial genome and chromosomal genes affecting mitochondrial function may also be pursued, as was performed in our patient. Mutations in POLG1 and several mitochondrial genome polymorphisms were noted.

    Subsequently, our patient was started on a regimen of coenzyme Q10 (Co-Q10; ubiquinone), creatine, carnitine, folic acid and ?-lipoic acid. Co-Q10 transports electrons between complex I and complex III of the mitochondrial respiratory chain and has been shown to improve mitochondrial function in several studies [13].

    Creatine generates additional ATP through the creatine phosphate shuttle. Carnitine enhances transport of fatty acids into the mitochondria. Folic acid is a cofactor for several mitochondrial enzymes, while ?-lipoic acid is a strong antioxidant [14].

    Although this treatment regimen was started several years after symptom onset, within the first few months our patient showed tremendous improvement. With continued therapy, her complaints dissipated over several months, with a gradual but sustained resolution of all symptoms.


    This case postulates the possible role of mitochondrial disease in the pathogenesis of the symptom complex known as fibromyalgia, whereby not only is the underlying defect identified at the molecular and genomic level, but with appropriate therapy, significant symptomatic improvement is also noted.

    Underlying mitochondrial disease may not be the only explanation for such a symptom complex, but the exact role of mitochondrial myopathy in the development of fibromyalgia needs to be studied further for a better understanding of the disease, and to ensure adequate and effective patient care.

    All patients with fibromyalgia should be evaluated for sleep disorders, endocrine disorders such as hypothyroidism and metabolic disorders before a diagnosis of primary fibromyalgia is given. The relative frequency of these medical problems in patients currently diagnosed with fibromyalgia is unclear, but would be worthy of future study.

    Patient's perspective

    I am pleased to contribute to this article as to help others with a similar problem. I am truly grateful to Dr Julian Ambrus Jr and to those who referred me to his expert care.

    I am a 44-year-old woman with mitochondrial myopathy confirmed by blood tests and muscle biopsy. This disease grew worse as I aged and was exacerbated by pregnancy and other stressors. Certain medications really made me feel ill (which I now know to be mitochondrial killers). My main symptoms included muscle and joint pain, weakness, fatigue, muscle twitching, pain, headaches, and visual disturbances.

    I have been to several doctors and have had several tests to rule out certain diseases. This process was slow and frustrating knowing I was sick and not having a clear answer. I was diagnosed with fibromyalgia, but there were other symptoms as well.

    My feet, hands and legs were weak to where I fell several times down stairs and in my home. I was too weak to hold dishes and to wash them. Simple daily chores proved difficult, and at times I could not get out of bed or a chair without help. The fibromyalgia medicines did not help.

    As my symptoms waxed and waned, time and rest helped a bit. I was concerned that in time I would get progressively worse.

    Today however, I am happy to say that I am feeling much better and able to enjoy normal activities again and more. I take the prescribed treatments for mitochondrial myopathy and can tell you they do work and they have been every bit worth the price.
  10. Enid

    Enid Senior Member

    Thanks for this - Firestormm - I never thought of fibromyalgia in isolation as a diagnosis very helpful (too many other problems).
  11. Valentijn

    Valentijn Senior Member

    How'd she get diagnosed with FM and not ME/CFS with exercise intolerance as a symptom?
  12. Firestormm


    Cornwall England
    Apparently this had come up before on MEA FB. Sorry I didn't realise/wasn't part of that discussion. Doesn't prevent my being interested in this though.

    20 February 2012 Dr Shepherd commented:

    'The references in this case study suggest that the doctors involved are not aware of the fact that abnormalities in muscle energy metabolism and mitochondrial function have been demonstrated in ME/CFS.

    This includes the early and excessive intracellular acidosis on exercise study I did with Professor George Radda at Oxford that first demonstrated an abnormality in skeletal muscle and the follow up work (MEA funded) done by Professor Julia Newton et al in Newcastle. And it may well be that the patient being described here has an ME/CFS- like illness with mitochondrial dysfunction.

    The various muscle energy supplements that are referred to - carnitine, creatine, Co-enzyme Q10 - are all very speculative forms of treatment for mitochondrial myopathies. In the case of ME/CFS there is no sound evidence to show that they are of benefit. That is my personal and professional experience as well. And it is interesting to note that there is no information on what happened to various indicators of muscle structure and function following treatment.

    The MEA has an information sheet that covers the pros and cons of all these muscle energy supplements, as well as doses that appear to be safe.

    The MEA Ramsay Research Fund is co-funding Professor Anne McArdle at Liverpool University, who is a leading authority on mitochondrial disease, to carry out further work into the connection between ME/CFS and mitochondrial dysfunction.'
    Enid likes this.
  13. Glynis Steele

    Glynis Steele Senior Member

    Newcastle upon Tyne UK
    Here is an old case study entitled "Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes ( MELAS): a mitochondrial disorder presents as fibromyalgia". As some of you may know, I look for all things d-lactic acid. In this case I searched for ME/CFS/Fibromyalgia and Lactic acidosis. If lactic acid levels are high in urine samples, this might suggest high d-lactic levels, and a further test for this should be carried out. In this case they looked at the blood, routine bloods would not show up a d-lactic acid level, as it is not part of a routine test.

    D-lactic acid as a bio-marker is being investigated in CFS patients, see below. acid study 2008 - Ethics Application.pdf

    I do have concerns about this study though, as they are using morning urine samples, and I have a paper in which it states that late afternoon/early evening samples are best at detecting d-lactate, and norming tests can actually test negative. I just hope it will still show up in bloods.
  14. mellster

    mellster Marco

    San Francisco
    Exercise intolerance does appear in FM as well, it's usually not as pronounced as in CFS/ME but no exercise makes FM (esp. the stiffness) worse as well - so FM patients are advised to exercise frequently but gently with specific exercises being superior to others.
  15. Tom Kindlon

    Tom Kindlon Senior Member

    I tried highlighting a possible relevance to ME or CFS, but the journal hasn't posted my e-comment/letter unfortunately:

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  16. Valentijn

    Valentijn Senior Member

    I took a look at the mitochondrial DNA for the ME/CFS patient 23andMe data which I have access to. Purple = 1% or lower prevalence in the general population, red = 1 - 2.5%, orange = 2.5 - 5%, and yellow = 5 - 10%. A red font for the SNP indicates that it's a known missense mutation. Underlined alleles and SNPs are known to cause problems.


    Overall, ME patients are looking pretty normal - more normal than the controls for many genes! But there are a few exceptions. One of those is rs3888511 on MT-RNR1, a pathogenic missense mutation which sometimes causes deafness on its own, but nearly always causes deafness when a certain type of antibiotics are taken. Apparently the mutation makes the protein look like something which the antibiotics are supposed to attack :rolleyes:

    I've got a pathogenic missense mutation at i3002114 (rs28357970) which can cause "adult-onset dystonia, spasticity, and core-type myopathy". The gene, MT-DN1, is also known to be a cause of MELAS. Mutations in the gene cause problems with the transfer of electrons from NADH to ubiquitone,

    rs28359178 is a very small increase in the odds of developing rheumatoid arthritis.

    But the one that looks most interesting is rs3928306 on MT-RNR2. It's not known to be a missense mutation, but should be present in about 17% of the general population, or 25% of Europeans. Yet it's present in 58% of our small ME patient sample, and 0% of controls. Problems with MT-RNR2 can cause muscle and nerve issues, especially involving the eyes. The gene is also neuroprotective (when functioning), and suppresses apoptosis.

    It also looks as though that SNP is used to determine if someone is of the H1 haplogroup (A = H1). So even if that SNP isn't causing problems itself, perhaps the H1 haplogroup has increased risk of ME/CFS due to some other common factor. Or it's just a random anomaly which is completely meaningless :D

    Here's a text list of the 23andMe SNPs and minor alleles, for those who like to use a plugin to see what they've got:
    i3003124 A
    i3000806 A

    i3001476 A
    rs28623747 A
    rs1970771 A
    i3000604 A
    i3000621 A
    rs3021089 A
    rs8896 A
    rs9743 C

    rs28357681 C
    i3001522 A
    rs3088309 A
    rs28357372 G
    i3001404 C
    i3001525 G

    i3002076 G
    rs28358584 G
    i3002114 G
    i3001460 T
    i3001461 G
    rs1599988 C
    rs28357976 G
    rs28357977 A
    i3002607 G
    i3001469 C
    i3002229 G
    rs28358275 C
    i3001502 A
    rs3915952 G
    rs28358285 C
    i3001012 T
    i3001505 A
    rs2853493 G
    rs28529320 C
    rs28550734 T
    rs28358280 G
    i3000937 C
    rs28617389 A
    rs28397767 A
    rs28359172 G
    rs28359175 G
    rs3899498 A
    rs28359178 A
    rs28630861 C
    i3001513 G
    i3001241 C
    rs41535848 G
    rs28357670 T
    rs3915611 G
    rs28357675 C
    i3001518 G

    rs3888511 G/C
    rs3928305 A
    rs28358576 G
    rs28358577 A
    i3001455 C
    rs3928306 A

    i3002264 A
    rs41347846 C
    rs2853498 G
    i3001100 C
    rs2853510 G
    rs28357377 A
    rs28358279 C
    i3000624 T
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  17. bel canto

    bel canto Senior Member

    Thanks, Val!

    As the plug-in doesn't work for the is #'s, I've added the list below. The first column is the last 4 digits of the is300xxxx.

    3124 rs3135028 A
    0806 rs28358270 A
    1476 rs41474553 A
    0604 rs28358875 A
    0621 rs199474822 A
    1522 rs41518645 A
    1404 rs200975632 C
    1525 rs41337244 G
    2076 rs202123618 G
    2114 rs28357970 G
    1460 rs41402945 T
    1461 rs41504646 G
    2607 rs28357980 G
    1469 rs41419549 C
    2229 rs199794187 G
    1502 rs41467651 A
    1012 rs55714831 T
    1505 rs201999217 A
    0937 rs200487531 C
    1513 rs41358152 G
    1241 rs28359184 C
    1518 rs41354845 G
    1455 rs28358579 C
    2269 rs201932824 A
    1100 rs201754056 C
    0624 rs201950015 T
    Last edited: Feb 10, 2014
  18. bel canto

    bel canto Senior Member

    Hmmm.....only 5 of those rs #'s work for the plug-in. anybody know why that would be?

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