A patient with desminopathy (mutation Thr341Pro DES in a heterozygous state) with the progression of the disease has a decrease in taste and smell, immunosuppression, and an increase in IgA in the blood.
Oddly enough, but all this is characteristic of infections, including viral ones. For example, it is known that if the hepatitis C virus is not treated, then death will occur in 20 years.
In the identified case of late onset desminopathy, muscle weakness manifests itself at the age of 30, and death occurs 20 years after the onset of the disease.
Could the desmin mutation in myofibrillar myopathy be caused by an infection?
Perhaps the infection contributes to the progression of desminopathy?
Kindly check https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy
Also check https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776705/
Dear Chinaza Godswill Awuchi, thank you very much for the links to the articles. But unfortunately, the information provided does not contain information about a possible connection between infection and desminopathy.
Dear Dr. Pauls
I’m not a clinician, but are you sure that these symptoms are not because of COVID-19?
Dear Tara Akhtarkhavari, thanks for your reply! We have been observing the development of these symptoms in a case of desminopathy for 10 years already.
Yes, these symptoms are typical not only for COVID-19, but also for other infections, including viral ones. We are confident that these symptoms in the patient are not due to COVID-19.
Theoretically it wolud be possible but extremely rare, because the virus or other infectious agents should be present in all the cells with the mutation modifying DNA in the same way; instead the most likely thing is that a virus, eg Epstein Barr virus, may have been off the hook a pre-existing mutations silent until the infection
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