Need help for dystonia

[Tracy]

I could use some advice or ideas regarding a tough patient of mine with dystonia. Not sure how much information is enough or too much here...I could probably write a novel about her. I'll try to stick to the basics and can provide more info. as needed. I started working with her in 2004. She arrived with a script for SI dysfunction, but it became quickly apparent that there was a lot more going on than that. She had been dealing with an incidious onset of L lower quadrant abdominal pain for a number of months (this was her first and original symptom). She was seen by a number of OB/Gyn's and eventually had a laparoscopy. She emerged from the laparoscopy with muscle spasms/tremors primarily at the L UE and R LE...the tremor mostly resolved at the LE, but remained in the UE (tremor at rest and with movement). She came to me about 1-11/2 months after this surgery. She was already demonstrating some tone in the B LE and L UE/trunk. Her tone gradually worsened with significant involvement of the B LE's. She was beginning to have great difficulty walking. We did a trial of AFO's (I know that doesn't often work for dystonia), but it helped her a lot, and they seem to dampen the tone a bit when she has them on, which is all the time during waking hours, as it is the only way she can remain mobile. Eventually, to be functional at the B LE with gait, she also had to have some hip banding added to the AFO's, again, it was helpful in keeping her mobile. She's had just about every test known to man, including comprehensive MRI's and scans of the entire spine/cranium, blood testing, etc. Largely, scans have been absolutely negative. The doctors tell her her blood tests are all "a little off", and with the exception of diagnosing a gall bladder that is largely nonfunctional, and discovering celiac disease, there are no other abnormalities noted with the tests. She went on a gluten-free diet in Aug. '05, and she actually got sicker (diarrhea, vomiting at times, nausea), and had a bad downturn with symptoms about that time, but has made some gradual improvement since around Oct/Nov., and she hasn't looked this good for some time now. There are many curious symptoms or reactions to treatment, but not sure how relevant they are. Of note that has been most helpful in treating her: Doing what I call a "waggle", where I hold the involved limb and wiggle/jiggle it rhythmically/gently - this greatly dampens the tone and we can get some good ROM done, although I haven' t used this for awhile - we stopped doing it when she got so bad last fall, as I discovered a better technique that we are currently using: if I apply constant pressure (medium amount of pressure, or sometimes light pressure) to certain areas, the tone completely disappears in the lower extremity. For example, originally, at the R LE, if I gave her pressure directly over the prox. HS attachment, her R LE tone completely disappeared and I could move the LE as if nothing was wrong with it (although it takes some assistance and a lot of practicing and coaching to get her to elicit movement at the foot; she can initiate better at the hip/knee). Other spots have included the glut. med., deep hip rotators, prox. Quad., and post. tib. regions. These areas seem to work well for awhile, then they no longer seem to dampen the tone, and I have to find new spots to treat with pressure. Currently, the location of the month is the prox. Quads. Please provide any advice, words of wisdom, etc. that may be helpful in this case. Again, I have a long history with this young lady, so can provide a lot more info. if necessary, and there are MANY curiosities about her and her symptoms, just not sure if they are relevant. Thought this was plenty to start! Thanks in advance.

[nari]

Tracy

Welcome to SomaSimple. Your first post has me scratching the old brain for thoughts on this lady of yours. Sounds quite peculiar.

First - some questions:

What is B LE? I have learned that the LE=lower extremity but the B? (In Australia we use LL and UL)

What is the working/provisional diagnosis the medicos are using for these problems? Or or they in the dark as well?

Pressure over the skin/subdermal structures always helps with hypertonus, but it doesn't last, as you know. Interesting that the laparoscopy made things worse, as did the gluten-free diet.....

Can you tell me more of her history? Age? Premorbid conditions?
Does the hypertonus increase or decrease when she 1) lies down or 2) stands?
If her presenting symptom was abdo pain, why was the diagnosis for SI dsyfunction?


Nari

[Tracy]

Nari - Thanks for the welcome!

Answering your questions: The B in "B LE" is bilateral.
The working diagnosis is "dystonia", of unknown etiology - not particularly helpful, which tells me that, yes, the docs are in the dark about this as well.
She is a 21 y.o. female with a largely unremarkable previous history, aside from one noteable finding - she has hypotonicity at the R UE - the best I can describe it is that the hand looks like a "cerebral palsy" hand (ulnar drift of wrist and fingers). She demonstrates global atrophy at the R UE and some instability at the R shldr. When questioned about this at the initial eval, she said the arm/hand had been like this since birth, and she was never told a diagnoisis or reason for it. One of the many doctors she has seen called it a "brachial plexopathy", and another "expert" vaguely alluded to the possibility of C.P...is that possible, to have one UE affected by C.P. but not have any other clinical symptoms??
As far as her medical history just prior to her coming to me...she had some low grade SI symptoms and discomfort apparently for a number of years, but nothing too remarkable. In approx. Jan. 2003, she began having the L lower abdominal quadrant pain, with an exacerbation of the other symptoms. Main complaint though was always pain originating at the L ASIS region, and then radiating to the L LB, SI, and groin. This pain gradually worsened, and she sought medical treatment. Because of the location of pain near the ASIS, and one of her docs discovering a leg length discrepency, she was referred to me with the SI Dx. I suspect the leg length discrepency was a result of the tone that was already starting, as her posture was already noticably affected by the time I saw her.
As far as her tone in sitting or standing, it seems to be a little better with standing, although not particularly remarkably so. Her tone significantly increases in sidelying, unless I push the treatment table all the way up against the wall and have her on her side facing it, although I think this is just a function of her feeling safer in this position, so she can relax better.
Other things that come to mind: She is on synamet (spelling?) which has significantly helped her, and during the times she's been off it, she regresses. She's also on Baclofen, which also seems to help. Her tone relaxes at night when sleeping, but apparently doesn't go away completely. She can run, and the tone will go away, but this is not particularly unusual either, from what I'm told. Of course, she's got no stamina to do this, and it's hard on her body. Another curious fact...she doesn't have enough strength or lung capacity to blow up a balloon, yet one day last fall, she decided to see how far she could run, and went about 1/4 mile before stopping...seems like she'd need some better lung capacity than what she's got to be able to do that, considering she hasn't done anything cardio-wise for about 2 years. (she did this run 2-3 times in about a week).
As far as the laparoscopy, the docs think for some reason the anaesthetic "triggered" the tone.
Hmmm...there are lots of other small oddities, but not sure if they are relavant to the case, or if they are just odd and interesting...like I said, I could prob. go on for awhile about this case. Would you like more info? If anyone has any treatments or ideas that have been successful with dystonia, please let me know. I am also concerned that no one has come up with a cause for her dystonia, but maybe it will never be explained. Thanks in advance for your input!

[Jon Newman]

This seems like an informative website

http://www.dystonia-foundation.org/treatment/

I noticed they have a link about complementary therapies (PT is listed there among other things). You might get some ideas there.

[Tracy]

Thanks, Jon -

I spent a little time there - the site seemed vaguely familiar. I think I visited it way back when I started working with her...I think I found just about every site on dystonia!! I keep running into Deep Brain Stimulation as a treatment option for severe dystonia, and one of her doctors was considering it as an option at one time, but she and her family aren't/weren't yet ready to commit to something like this. Has anyone had any first hand experience with DBS?? Also, nobody seems to talk about what to expect in the long haul with these patients...does dystonia worsen, improve, or stay the same over long periods of time? Will she be dealing with dystonia 20 years from now? Is there any hope for some recovery from the dystonia barring treatments like DBS?

[Jon Newman]

Hi Tracy,

Buried in that website is this page, it answers many of those questions.

http://www.dystonia-foundation.org/defined/prognosis.asp


I don't know anyone undergoing deep brain stimulation.

[Tracy]

Thanks again Jon - that page gave me more info. than I've found so far about prognosis, however, I remain incredibly frustrated by the ambiguity of this diagnosis.

One thing I read on that page indicated it is highly unusual for breathing problems to be associated with dystonia. This patient of mine developed breathing problems last fall when her other symptoms were so bad. The episodes come on rather suddenly, and she has great difficulty breathing - very little air is exchanged. At first, I was pretty freaked out, but once I calmed myself down, took her pulse, and monitored her (her color of the face was somewhat reddish, but never bluish, as if she wasn't getting enough O2), with pulse not unreasonalbe, I realized she must be getting enough O2 to be stable. She has difficulty responding verbally during these episodes, but afterwards indicates she remains fully conscious, and indicates the breathing is difficult because of what she feels is contraction of the muscles surrounding the throat area. She doesn't seem to feel anything abnormal down around the diaphragm. Also unusual, as if the info. I've already provided isn't unusual enough, is that more often than not, she has had these episodes after fueling her car, during driving, and during 2 separate episodes during chemistry class lab when they were working with ethanol...ethanol being the common component here...but that doesn't explain the other times when ethanol was absent. These breathing episodes got better in Oct/Nov last year when all her other symptoms got better, but just this week, shes been having breathing episodes again. Anyone have any thoughts on this, treatment ideas for her, or any advice? Please help!!

[Diane]

Sounds like it could be a seizure of some sort.

[Mabo]

Stange story ! I have treated many "dystonia" cases such as spasmodic torticollis, writers cramp, spasticity (CP,Little..) and the only pathology I can think of is Wilson disease: 21 years old, female, abdominal problems.... You can find more about it on the website of Wemove

http://www.wemove.org/

[Tracy]

Diane -

Interesting thought, although it is my initial impression that this is not a seizure, or at least not one I have ever had experience with.

Mabo -

Thanks for the site info. I looked at it, and looked at a few other sites regarding Wilson's disease - very interesting. I can say that there are a lot of similarities listed under symptoms for Wilson's disease, and what she is or has demonstrated. Similarities include weight loss (although she has gained weight since being on the gluten-free diet), tremor (this symptom was originally some of the first signs of neuro involvment immed. after she came out of the laparoscopy), dystonia (of course), balance problems, ataxia, decreased fine motor skills, and occasional dysarthria/whispering dysphonia/dysphagia...although most of these symptoms listed above could be related to the primary dystonia.

The site also mentions unusual cognitive status. Although largely I wrote some of these things off to altered cognition related to the meds she was on, now I am wondering...after the first couple of times I saw her, and was realizing there was something serious happening (not SI dyfunction!), I started questioning her about other symptoms. When asked about cognitive changes, she said she had experienced difficulty with comprehension with reading, stating "sometimes I see Spanish instead of English or see numbers instead of letters". Some of her cognitive "fuzzyness" improved with some medication changes, and I didn't think much about it again. I'm pretty sure she had testing for metals in the body, but sounds like she would need special/different tests to find the Wilson's disease. Also seems like her liver function tests would be through the roof if she had this disease, and would have been picked up on already...I will question her about her previous testing again.

More bizarre stories, which were brought to mind reading the info. on the Wilson's disease site. The site was talking about kidney and liver dysfunction assoc. with the disease. For the last 2 mo. or so, she has been seeing an NAET practitioner (Namburipad's Allergy Elimination Techniques). Now...I have never given this treatment much thought - it's a little too much on the fringe for me. But whatever he's doing (and I'm not at all sure what that is), it seems to have a significant affect on her. By her report, he started his first several treatments with her by "testing" for run of the mill things like gluten, eggs, etc. As the treatments cont'd, she came back to me every week with something more bizarre that he was testing. Recently, he tested for "liver", "kidney", "brain", and "neurotransmitters". I saw her the next day and she was a mess...lots of head and facial tremors/tone/tics, which disappated shortly after our treatment sessions (not sure if it was something I did or just the passing of time). Last week, she came in after seeing him the day before...he hadn't done any testing, but put her on some vitamins, pepsin (?), and enzymes...she was experiencing significant dyskinesia (entire body)...she looked like ideomotor movement on crack!! During the treatment session, she had another of the breathing episodes lasting about 30 -45 min., then everything seemed to calm down a little, but she was spent.

I don't know what this guy is doing, nor do I necessarily believe in his treatment, but I can tell you that whatever he's doing, he's affecting her. Strange...anyone have any further insights???