Genetic test for Mendelian fatigue and muscle weakness syndromes, 2020, Kiani et al

Open access PDF available from https://www.mattioli1885journals.com/index.php/actabiomedica/article/view/10642

 

This is an interesting read. I sometimes think that ME/CFS as heterogeneous condition has high overlap with some of these genetic diseases. The authors list exercise as major trigger of symptoms for this category of diseases. That could mean these genetic diseases are more common than thought and perhaps generally recognized only in their most severe and obvious forms (with the nonrecognized cases perhaps acquiring other diagnoses like ME/CFS). Contrary to common belief, these diseases are not always obvious at birth. Infections can also act as apparent trigger for the disease (I understand this means the symptoms begin with an infection, even though the genetic defect was always there). It fits well with a view of ME/CFS as being a genetic predisposition plus an infectious triggers. It could also mean that ME/CFS, while maybe not having a genetic cause, still shares some similarities, perhaps in the disruption of metabolic pathways (by some aberrant immune signal rather than a genetic defect). A disruption that becomes most evident when there is increased energy demand.

The authors here also list orthostatic intolerance and POTS.

I provided a saliva sample to this research group earlier this year. Hoping to learn more soon.