Mitochondrial testing and future muscle biopsy

[drewidia]

So my results came back and there was a finding of unknown clinical significance he seems focused on - now wants a muscle biopsy too

This all has to do he said with sporadic vs genetic als - I’m cool with doing it if it helps pay it forward

The geneticist appt is going to be after the biopsy - so was wondering if anyone had heard of this type of stuff (as this is new for me)

TIA

 

[Nikki J]

I moved this so that any cals who have insights can comment.

First this is a variant of unknown significance. That means what it says. It is a genetic variation that you have from the norm. It may or may not mean anything. They don’t have enough data to know. It is possible that this relates to your problems. It is also possible it does not. Everyone has little genetic glitches but most are benign.

It is in a place that relates to mitochondrial function. Mitochondria are implicated in ALS. Mitochondrial
Dysfunction occurs early in its course. However mitochondrial disease is also a disease on its own and someone with suspected mitochondrial myopathy would usually have a muscle biopsy to diagnose it.

Mitochondrial dysfunction is also implicated in some dementia.

This is not a finding I have run across before and I couldn’t find this particular variant when I searched so I don’t think there will be a lot of data on it

 

[Stevmil]

Not sure if this is helpful but I had genetic sampling done, mainly to determine if I had familial or sporadic ALS. But the tests showed no genetics are involved. My kids were happy of course, and that's a good thing. But truthfully I was kind of hoping I had the familial version because then I would have qualified for Qualsody, which as you may know can actually stop or even reverse muscular degeneration. Anyway, the genetic sampling did turn up a unique chromosome 20 mutation that has the genetics people quite intrigued. They are now testing me for something called myelodisplastic syndrome which may be a type of blood cancer. But what also interests them is the possible link between my genetic mosaicism and ALS. Nobody has mentioned a muscle biopsy yet, but more blood tests have been requested.