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Case Report: Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome, Galán et al (2015)

Discussion in 'ME/CFS research' started by Arnie Pye, Oct 21, 2023.

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  1. Arnie Pye

    Arnie Pye Senior Member (Voting Rights)

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    Title : Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome

    Link : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748504/

    Abstract
    Introduction. Symptoms of mitochondrial diseases and chronic fatigue syndrome (CFS) frequently overlap and can easily be mistaken.

    Methods    . We report the case of a patient diagnosed with CFS and during follow-up was finally diagnosed with mitochondrial myopathy by histochemical study of muscle biopsy, spectrophotometric analysis of the complexes of the mitochondrial respiratory chain, and genetic studies.

    Results    . The results revealed 3% fiber-ragged blue and a severe deficiency of complexes I and IV and several mtDNA variants. Mother, sisters, and nephews showed similar symptoms, which strongly suggests a possible maternal inheritance. The patient and his family responded to treatment with high doses of riboflavin and thiamine with a remarkable and sustained fatigue and muscle symptoms improvement.

    Conclusions    . This case illustrates that initial symptoms of mitochondrial disease in adults can easily be mistaken with CFS, and in these patients a regular reassessment and monitoring of symptoms is recommended to reconfirm or change the diagnosis.

    Keywords: chronic fatigue syndrome, myalgic encephalomyelitis, mitochondrial myopathy, occipital neuralgia, riboflavin therapy

    This paper is Open Access

    Edit : Spacing
     
    Last edited: Oct 22, 2023
    Arnie Pye, Oct 21, 2023
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  2. Hutan

    Hutan Moderator Staff Member

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    Spanish report



     
    Hutan, Oct 21, 2023
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  3. Arnie Pye

    Arnie Pye Senior Member (Voting Rights)

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    I have never heard of the above happening in the UK. Has anyone else ever had annual reassessment and follow-up of symptoms for any long term health condition? I haven't.
     
    Arnie Pye, Oct 21, 2023
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  4. Hutan

    Hutan Moderator Staff Member

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    Very interesting, thanks Arnie Pye.

    It's sad to hear about the standard treatment for ME/CFS there in Valencia. But yes, at least this man's doctors remained alert for symptom changes and did do a lot of testing, including the genetic testing.


    I think my symptoms could be written up to almost exactly match those of this man, and my son's too. And I have the hearing loss in one ear and proximal muscle weakness. But I think many people here have a similar constellation of symptoms, so I don't know.

    I don't know how definitive those mitochondrial DNA variants are - this man's symptoms sounded very very much like ME/CFS. And I'm not entirely convinced that the vitamin regime was as curative as it is presented here. But, perhaps it is time to go in to battle with my GP again and try to get some genetic testing. Perhaps there is a way to get it done privately.
     
    Hutan, Oct 21, 2023
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  5. Ash

    Ash Senior Member (Voting Rights)

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    Very interesting @Arnie Pye thank you.

    They did lots of testing that most of us would be denied if we requested it and certainly would not be offered it.

    They found organic pathology in one guy diagnosed with CFS who had all those symptoms their profession likes to label “vague” “non specific” and suggestive of “unexplained by organic pathology” fished him out of the CFS dustbin and started studying him, bio medically. Found organic pathology. Treated him. He got a better life.



    But they still concluded that there is overlap with psychosomatic disorders and CFS. How can they know this?
    Without fishing every man woman and child out of that stagnant pond how can they say anyone belongs there?
     
    Last edited: Oct 21, 2023
    Ash, Oct 21, 2023
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  6. Ash

    Ash Senior Member (Voting Rights)

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    :rofl: But only because I feel like crying…
     
    Ash, Oct 21, 2023
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