Mitochondrial myopathy or mitochondrial dysfunction in ME/CFS?

[charles shepherd]

Mitochondrial myopathy in follow-up of a patient with CFS:
http://hic.sagepub.com/content/3/3/2324709615607908.full
(Full paper available)

This case report links in with a discussion currently taking place on MEA Facebook:

From anon:
I would like to ask if many people with M.E. have been tested for adult mitochondrial disease, or what would the main differentiating symptoms be between the two illnesses? Thanks for any information you can provide.

CS reply:

I assume that you are referring to some form of primary muscle/mitochondrial disease and not the type of mitochondrial dysfunction that has been shown to be present in at least a sub-group of people with ME/CFS, and which is being investigated in a number of research studies being funded by the MEA Ramsay Research Fund

As there have been cases where people with a primary muscle/mitochondrial disorder have been misdiagnosed as ME/CFS, it is important to consider this possibilty where there are muscle symptoms or signs that are either not fully consistent with ME/CFS, or are suggestive of a primary muscle/mitochondrial disease.

For example, as was discussed on MEA Facebook a few days ago, muscle wasting is unusual in people who have mild or moderate ME/CFS and who remain active. So if someone has a degree of muscle wasting/atrophy that is not consistent with their level of activity (or inactivity) then the possibility of a primary muscle disease will probably need to be considered and possibly investigated. And if someone has other neurological symptoms or signs that are not consistent with ME/CFS, along with muscle weakness and/or wasting, then this is another reason to consider a primary muscle/mitochondrial disease.

There are a number of investigations that can help here - including blood tests, electromyography, a muscle biopsy and looking at the mitochondria under an electron microscope, and the use of magnetic resonance spectroscopy to look at how the muscle is performing at a bioochemical level and how it is producing energy.

This is quite an old medical review but it is still very useful and comes from the muscle 'centre of excellence' in Newcastle where some of the MEA funded research into mitochondrial function in ME/CFS is/has been taking place:

http://jnnp.bmj.com/content/63/5/559.full

Dr Charles Shepherd
Hon Medical Adviser, MEA

 

[dannybex]

Very interesting. I have had muscle wasting over the last 4 years (been ill for 17) but it is tied in with my reduced level of activity (I now use a wheelchair 80-90% of the time). Krebs cycle problems showed up on my NutrEval test and have been trying to address those and might be finally starting to make some progress in that regard.

Interesting that something as simple as high dose riboflavin and thiamine helped this patient and his family.

Thanks Dr. Shepard.