Has anyone ever heard of "dysautonomia"?

Submitted by karen b on Thu, 2006-11-02 00:49

I was wondering if anyone has ever heard of dysautonomia or the word in french is "dysautonomie"  It is a neurological diseases, very rare. As some of you might remember, my father has MS and he is doing the protocol. But now, it is myself that has been diagnosed with "dysautonomie". Nothing to do with MS as I understand, but the outcom is similar and seem's to be faster then MS and with no treatment to stop or slower the progresion (for what I know as to now) I am waiting to see a neurologist specialised in dysautonomie. This is all very new to me. I am 31 years old and have 2 adorables young kids and a wounderfull husband (I want to be here with theme and for theme, not the other way around) And the point is... If someone does now about this, would this treatment be an option for me????? Has anyone with this didease bean treated with antibiotics??? 



Nothing to do with MS as I understand, but the outcom is similar and seem's to be faster then MS and with no treatment to stop or slower the progresion

What symptoms do you have? Is it possible you are confused over terminology? What we call POTS (postural orthostatic tachycardia) here in the USA is something I know only a little about, but I do not think it is a progressive disease, or that it has an MS-like outcome at all.

Dysautonomia is a very broad term meaning something's wrong with the autonomic nervous system. I think it includes both POTS and Riley-Day, but it looks like POTS and Riley-Day are non-overlapping categories. This apparantly-MD-authored web page seems to assert so...


I had never heard of Riley-Day, which seems to have a recessive genetic basis. Riley-Day is discussed here and seems to usually be diagnosed in childhood, and occur primarily in Ashkenazi Jews:


Thank you for responding! To answer your question, here are a few of my symptoms: postural orthostatic tachycardia (my heart rate goes from 60 puls/min to 150puls/min just by getting up), fatigue +++, trouble with my vision, my right pupile dos not react anymore to lightand is larger then the other one, restlesss legs syndrome, lost of balance, numness in one leg. left side of body has less reaction and lost of feeling 30% (from the neurologist). Sorreness in my articulations(on and off), memory lost. neurologic bladder (proven by tests), dry mouth, "hypertranspiration" from chess to head, and I can go on....  My neurologist wrote "dysautonomie secondaire" (french) with degeneratif processes. She also wrote prognostic very bad. Hope you understand, trying my best to translate (im french). Everything you wrote seem's to be right to me, it usualy is hereditary and primarily in Jews and also mostly in women, but can also be auto-immune, or if I would have hade a "Guilain-barer" before without knowing it. Other's then Jews can have this as the Neuro said. As I understand and was told, we are born with this if hereditary but not diagnost in a early age.(Hope to God that my kid's will not be affected with this) They both had very bad reflex and my daughter (3 years old) was in investigation for a hole year. They never found what she has.The term Dysautonomia means: "abnormal nervous autonome system degeneratif" (it is a large term I know) I found last night after posting this message a forum of discussion and the strory's that I read, there situation are similar to advance MS because it "atteint" (sorry in french) the nervous system, so we know the outcom..... But who know's, every body is different! Thank you for the adresses and your response!

Karen b

karen b

I don't quite understand what you mean by hypertranspiration, but I think I understand all the rest (articulations are usually called joints). I wonder whether it might be possible for most of your symptoms to be consistent with MS or some comparable immune activation process in the brain. I'm no doctor though (just a biology student) and I don't know MS very thoroughly. You would want much, much better advice on than I can give.

However, the Riley-Day diagnosis seems simple to address. Does your doctor think you have actual Riley-Day? If so, have they sequenced your Riley-Day gene (IKBKAP) to show the mutation? If I were in your place - if they are actually saying that it's Riley-Day and if there were any possbility of it not being Riley-Day - I would be very assertive in requesting the gene test described on the website I cited:

The diagnosis of Riley-Day syndrome is made through observing the signs and symptoms, and by molecular genetic testing of the IKBKAP gene located on chromosome 9.

If that is really the only gene which can cause Riley-Day, then the genetic test for the mutation in the gene should be ~98-100% accurate. Since Riley-Day is recessive, even if you have it any child of yours would be at no risk for Riley-Day unless their father were heterozygous for IKBKAP. Anyway, genetic testing should be able to reveal whether a child has the homozygosity that causes the disease.

Basically, you should find out for sure if it's Riley-Day, and if not, perhaps examine any possible indications of other neurologic diagnoses. Do you have cerebrospinal fluid oligoclonal bands? Have you had an MRI? If it were actually Riley-Day, I guess it would be at least conceivable that the mutation causes disease by creating suceptibility to infection, but I know nothing about that.

thank's again Eric! It' nice to have advice from other people and It give's me think's to ask about when I'll see my neurologist. the real word in french is hypersudation (wanted to make it more simple). In english, I dont know the word. Description: sweating, trouble with termoregulation. I sometimes "sweat" from the chest up, but get very cold at night (strange). I did pass a MRI (2) and there was no "plaques"the result is : "there is degenerative disc disease involving T11-T12 with dis narrowing and desiccation. And sorry about calling it Riley-Day, it's what I readed. I know there are different types of dysatonomia and I read that they call it also Riley-Day???? But that is on a web site, so maybe it's wrong info. My neurologist is sending me see a neurologist specialised in dysautonomie where I will pass a "biopsie cutanée" skin biopsie I guess... the tilt-chaire and "test de sueur" sweating test maybe.... those test confirm the diagnost and probably, I guess "l'étiologie" the cause of it..... My neurologist is convince that I have Dysautonomia. While I'm at it, you being in biology, would you perhaps know what it mean's to have zéro "Eosino" in my blood test (all of the blood test I pasted), nobody seams to know????? And again thank you for your time and good analysing1

Karen b

karen b

I don't know anything about vertebral discs, or other possible etiologies your neurologist might want to examine.

Dysautonomia as a diagnostic entity is new to me. Many patients with CFS, including myself, have experienced some amount of classically dysautonomic symptoms, such as almost fainting whenever one stands up from a chair. I would also often have periods of very low blood pressure, with a high heart rate (~120, whereas my heart rate was normally 55).

So, as I said I am only a student, and am not a student in medicine. I have not studied this area of dysautonomia at all. I don't know whether there may be evidence that the etiology of a case like yours might be genetic.

However, all your symptoms seem to also exist in immuno-activation diseases like CFS and MS. (CFS is not universally accepted as an immuno-activation disease, but I am virtually certain that it is one.) Therefore, I think, unless someone can give you good evidence that there is a genetic etiology for your case, it seems logical to suppose that an immuno-activation etiology is at least possible. At least that is what I would think if this happened to me. You might want to see what some medical experts would think of this logic.

At that point you would ask, if it were an immuno-activation disease, assuming that it actually were one, what is the causing the immuno-activation? And that's probably a question no one can actually answer. The whole field of immuno-activation diseases is extremely cloudy. The people studying this field are usually very smart, but nature happens to be extremely mystifying in this particular area. Many of the traditional frameworks, like the idea that MS and RA are driven by T lymphocytes, now appear likely to be wrong. Even in a disease where we can see an autoimmune process with some clarity (such as pemphigus vulgaris and myasthenia gravis, at least according to my shallow understanding of those diseases), we don't know what causes the autoimmunity. Chronic bacterial infection is at least conceivable as a cause of autoimmunity.

So, you may be able to find out more information I hope, that could help in analyzing risks and benefits of various possible experimental/unstudied treatments. In my case, my decision to try antibacterials was very easy. I had already personally experienced, in the past, great success with a scientific, but non-mainstream medical treatment (developed at Stanford University), and I had the example of many CFS cases that had gone before me. Personally, I think it's very likely that very many diseases feature undiscovered chronic bacterial infection. The signs of this are everywhere, though for the most part they are not very air-tight. For example, this clinical trial, though small, was very successful:

Carter JD, Valeriano J, Vasey FB. Related Articles, Links 
 Doxycycline versus doxycycline and rifampin in undifferentiated spondyloarthropathy, with special reference to chlamydia-induced arthritis. A prospective, randomized 9-month comparison.
J Rheumatol. 2004 Oct;31(10):1973-80.
PMID: 15468362 [PubMed - indexed for MEDLINE] 

But because antibiotics may sometimes act in ways having nothing to do with bacteria, the scientific community has not jumped on this as strong evidence that there is an undiscovered bacterial infection in spondyloarthropathy. Science is extremely conservative and ponderous - sometimes justifiably, and sometimes not-so-justifiably. Many clinical trials of this size, in practice, seem to show effects which turn out not to be detectable later on in a larger trial (or so I've heard). So, many medical people would take a study like this more seriously if it had more patients. Such a study is very expensive though, and it hasn't been run yet.



I'm a long way from my wicket, and pretend no knowledge, but here is a wikipedia link to 'dysautonomia' [link] Is it akin to autonomic neuropathy, which has associations with longstanding diabetes, and, less commonly, other chronic diseases? Here's a link to succinct Mayo Clinic pages about autonomic neuropathy [link] . Autonomic neuropathy is apparently associated with vitamin B12 deficiency [link] and elevated homocysteine [link]. These are possible avenues for further thought.

D W - [Myalgia and hypertension (typically 155/95.) Began (2003) taking doxycycline and macrolide and later adding metronidazole. No medication now. Morning BP typically 110/75]

   ... My neurologist wrote "dysautonomie secondaire" (french) with degeneratif processes.

   karen; it seems to be seconder dysautonomia, which means not a genetic disease and has a unknown cause. So there is a possiblity of relation with any infection. I would asvice you to get your CPN and borrelia titers in a good lab.

(chlamydia pneumonia IgG, IgM and western blot for borrelia burgderfori)



Suspıcıon of MS (transient nystagmus during conjugated gaze on february 2008, blepharospazms and some optic complaints on february 2009-no plaque on MRI), Vit D3 started 400 IU and elevated to 2000 ıu ın 40 days.