Question for a Friend - Movement or Mitochondrial?
 

Hi, everyone. I was going to post this on the rare diseases board but it doesn't look like it's been very active. This post might be helpful to someone who suspects a movement disorder too, even though it's a question.

There is someone on another board I frequent who has been having problems for a long time. Her doctors suspected MS, which is how I "met" her. There is no evidence of MS and her doctors now suspect she has either a movement or mitochondrial disorder. I think they might be on the right track.

She has weakness, vision impairment (determined not to be the optic nerve itself), seizures, spasticity issues and fluctuating blood sugar. She also has had ulcerative colitis for years. BTW, she is only 21. I (I understand that her blood sugar issues and ulcerative colitis could even be connected to a mitochondrial disorder.) They will do the DNA panel (for mitochondrial) first and then if nothing shows up she will move on to the movement disorder specialist. (They will also test for Stiff Person syndrome along with this blood panel.)

I'm not even exactly sure what my question is. I guess I'm just wondering if anyone has been down a similar path and if so, what the conclusion or dx path was.

Thanks in advance for any insight.

First, my thoughts go out to your friend. As for mito, in order to accurately diagnose it, you have to go through a muscle biopsy, not just a DNA test, as many sequences have never been found. It's best to have the muscle biopsy done fresh not frozen as when it is frozen it can easily be contaminated (ask me how I know).

Long story short I have mito which has neurological problems including Dystonia. It's the dystonia of the jaw that is now becoming an enormous problem of all things. We're now looking at any and all alternatives now that the botox isn't working nearly so well as it once did...

So if you have mito you can have a resulting movement problem and often do, or, you can have a movement disorder for some other reason, but if you're looking at mito, you should be looking at a biopsy, not just a DNA test, unless a parent has it and their DNA has been sequenced and the abnormality found.