Autonomic Mediated Pain and Dystonia, POTS seizures

[DizzyGirls]

My daughter has been suffering from what her neurologist had termed "generalized dystonia".  With that, he sent her to a Movement Disorders Clinic at a major university near us.  Near is a relative term.  We didn't have to go out of state.   We had a 2-1/2 hour appointment with the unfortunate news that they only treat primary, genetically mediated dystonia there and hers is atypical.  Definitely on the spectrum, she said, but not anything that she could treat because she's already on any medication she would choose to treat it with.  Because it's not primary, it most likely won't respond to the normal Botox, as we've found out already.  I have high suspicions that it is autonomically mediated after watching her go through this the last couple of years.  Because of that fact, she had no clue how to treat that.  We would have to see a neurologist in the Autonomic Clinic.  Most likely a wait of another few months. 

Whenever she relaxes, this horrible, overwhelming pain hits, then come the tremors or intense cramping spasms.  I call it posturing because, say it was her hand, it would remain that way until you apply some heat to make the muscles relax.  This can, and does, happen to any muscle in her body.  The muscles squeeze her bones so tightly that they feel as though they will break.  The fact that it seems to be autonomically mediated explains why her GI tract is so horrible as well as her bladder.  I know for a fact that when her sympathetic relaxes and parasympathetic is supposed to kick it, something goes haywire.  It's the only thing that's consistent.  I am looking for any information, medical journal articles, etc. on anything that might relate to this theory.  If anybody has anything to share, I would appreciate it!!

[GasconAlex]

If you come up with any answers can you let me know? It sounds fairly similar to the dystonia that I have, for me it's predominantly the members and not the corps, and is fairly severe. As I could no longer flatten one leg the neuro thought of Botox, but after examining the rest decided that it was really generalised so started me on baclofen, this has helped slow down the progression, but currently up to 70mg a day having to take in the middle of the night as if I don't move the muscles they contract until they give up and start shaking. Since this hurts and wakes my wife up I take a dose at between 2 and 3 am. I don't have to have an alarm, as by that time the leg, arm and hand muscles are all so tense it wakes me up anyway.

 

The rest of the contractions are annoying and make life difficult, except for the feet where the contraction from shoe size EU 48/49 to 45/46 (US 13/14 to 10.5/11) has made getting footwear easier at the very least.

[DizzyGirls]

We think we might have found out what has been causing my daughter's spasms/dystonia/tremors.  The assistant doctor called a couple of days after our appointment at the Movement Disorders Clinic with results from one of the labs they had run.  They had run an anti-TPO antibody test.  It's a rarely run test that checks for autoimmune thyroid disease.  The highest it's supposed to be is 6, but my daughter's was 32.something!  I'm sure you're asking how does dystonia, tremors, spasms and such fit in.  Well, I did a little research and found that muscle spasms are a little known symptom of autoimmune thyroid disease, which I imagine is simply Hashimoto's disease.  I've been asking our PCP to check her thyroid more thoroughly for the past couple of years, but his basic test came back fine, so he wouldn't check further.  No wonder the poor thing has been suffering so much.  You might ask one of your doctors to run this very specific test.  Not just the normal thyroid panel, but this specific test.  I would have never thought that these muscle issues were related to thyroid.  I'm sure your wife would appreciate them getting to the bottom of it!  My husband has big feet, too! : )

[Pistol]

@DizzyGirls - yay!!! What good news!!! Hashimoto's can be fixed by resection of the thyroid - is that correct? I hope very much that that is the case - would it be wonderful if she could finally get some relief. Could that be the case for your other daughter too?

[GasconAlex]

Thanks for the tip, I have not had a tpo test just ft3 ft4 and TSH so I will mention it to my doctor. She did order thyroid tests last week but thought that a thyroid problem for me would have been unusual. Since I failed the tests I get another set tomorrow but the thyroid stuff wasn't on the second prescription so presumably isn't that. (I normally get the results direct, this time I opted for them to be snail mailed so I don't know what is worrying the doctor)