Idiopathic seems to be all the rage these days. Something is only idiopathic when no cause is found, not when a cause is not looked for.

I ran across this info:

Without the aid of DNA and autoimmune testing, about 30% of peripheral neuropathies remain idiopathic.1 Among idiopathic peripheral neuropathy cases, DNA testing ultimately identifies about 42% of the cases as Hereditary Motor-Sensory Neuropathy (HMSN), also known as Charcot-Marie-Tooth (CMT) disease.2 More than 20 subtypes of CMT have been identified to date, and new subtypes continue to be identified based on genetic linkage analysis.3 Genes implicated in CMT include peripheral myelin protein-22 (PMP22), early growth response 2 (EGR2), myelin protein zero (MPZ), connexin 32 (Cx32) and neurofilament light chain (NEFL or NF-L). In addition, mutations in the periaxin (PRX) gene have recently been identified as a cause of both an adult-onset recessive form of CMT and a severe childhood-onset form, Déjerine-Sottas neuropathy.

http://www.neurocast.com/site/conten...ns_06_2002.asp

It is an interesting read, however, do consider it is a company that does do testing, so one must always consider the source. This info is available on other sources, however, this one had the most information.

It seems to me, that PN is diagnosed by abnormal electrical studies, or that if one has normal electrical studies, that a move to skin biopsies is logical for diagnosis for small fiber neuropathy. Or if one has autonomic abnormalities a move to skin biopsies or establishing a central nervous system cause is reasonable. Sural Nerve biopsies are done more rarely these days due to the skin biopsies being so much less invasive.

It seems to me, that no one should go with out a definite diagnosis of small fiber neuropathy, nor CIDP, nor any central nervous system cause of symptomotology. The testing seems to be out there, in general. I can not understand any doctor leaping to any drastic procedures for pain or 'curative' reasons without first having exhausted all the testing to define which type or neuropathy it is.

Seems to me one should get a solid diagnosis of small fiber or CIDP out of the available testing without much ado. Most folks do.

Then those folks proceed onward to have metabolic, toxic and nutritional causes ruled out, then autoantibodies tested, the whole gamut from SLE, RA, SS, myasthenia gravis etc. and the other neural antibodies. Of course, paraneoplastic polyneuropathy is tested for, The the odder things like amyloidosis, sarcoidosis, porphyria, etc.

What is left after all tests are done and no cause is found for small fiber neuropathy is deemed 'idiopathic'. Of those idiopathic, some of them are likely Celiac, which is 'controversially' ruled in or out by blood testing unless one gets the more sophisticated villi testing. So let's rule out the Celiacs from the 'Idiopathics' and identify them as having a 'cause' for their neuropathy.

The above statement says, almost half, '42% of Idiopathics' have a genetic cause.

This means almost half the people with 'Idiopathic PN' are searching for a cause, or left wondering, when, there is a good chance that they have hereditary PN. What the other slightly more than half, have, search me??? It will take an interested researcher to uncover this.

Most insurance does not pay for genetic testing. Even if it does, there are other issues to be dealth with. If you can get the testing, you need to think of the ramifications of the diagnosis, (job discrimination, health insurance discrimination etc.) and the ramifications of not getting the diagnosis (not getting proper treatment and having increasing disability, not getting mobility aids paid for, and potentially not getting SSDI or LTD due to a lack of substantial reason for the PN).

If no one in your family has the disease, then I imagine you would feel more compelled to find out what is going on....if one person has it, you can likely assume your symptoms, if not due to other causes, are due to hereditary PN.

I believe the company that authored this piece does offer a program for those who have no means by which to get genetically tested. They offer a substantial discount for private payers, with a fee cap.

I assume the astute physician rules out a lot of the genetic mutations by symptoms, so that one only has to undergo, several, not all of the genetic analysis or the expense would be substantial, really substantial.

If, truly 42% of idiopathic PNers do have a hereditary form of PN, that is a substantial number of people on here, that need to be thinking about this, because, hereditary PN is not curable, (altho there are some trial treatments that have worked on rodents--lucky rats) and requires a different approach then many other PNs.

Prevention of joint deformity, fractures and preservation of gait and mobility is crucial in the hereditary PNs.

There is a lot of info on hereditary PNs, and I am referring to CMT, Charcot Marie Tooth here, not just the HSNs, which in some literature are distinguished from CMT and in others not. Also consider that the myopathies or dystrophinopathies also can have PN as a component.

Not many folks seemed interested in the hereditary threads, and it is easy to ignore it if you feel you have no family history of this.

Perhaps reading the link below may change some minds, as to what hereditary PN is, and who is can affect. It is totally nontechnical, and a very interesting and somewhat inspirational read. I never associated a pro basketball player with it.

http://query.nytimes.com/gst/fullpag...pagewanted=all

Anyway have a great day.....my part of the country just shut down for the next 12 hours.

They have just pulled the snow plows........let it snow, let it blow....I can still see the top of my mailbox and fire number!

That means at least it will be there for a while, until those plows start up again. Let's see, what kind of new mailbox do I want this time???? Black, white, green, metal, plastic.......

I had read this article when it first came out some years back, and it does point out that when one has one of these "orpahn" diseases/conditons, getting the proper testing/diagnosis is all too often a matter of getting to the proper specialist or facility. In the case of an NBA basketball player, no expense or avenue will be spared, as teams have huge investments in their players. For others (without unlimited income), though . . .it may come down to what, and who, the insurance will pay for . . .

There are very few places, even with all the work going on with the human genome, that have the capability to thoroughly test and evaluate a suspected hereditary neuropathy that is not a classic Charcot-Marie presentation. Most of these are tertiary health centers with big neurological reserach departments, whose names are familiar to us--Hopkins, Mayo, Cornell Weill, Mass General, Jack Miller, Washington University (St. Louis), and their affiliates. If one does not have access to these, for whatever reason . . . the chances of remaining "idiopathic" increase dramatically.

In time, as research into genetic underpinnings of conditions proceeds, and the information trickles down to the average practice (and I suspect that may take longer than the actual research), we should have fewer people "unsolved". The reserach is likely, though, to produce a whole new set of questions into the role of genetic susceptibility to certain "acquired" condtions such as CIDP or diabetes. In the end, we may all be able to consult genetic profiles that describe our relative susceptibility to various condition in great detail--and, as you can imagine what use that will put to by for-profit insurers, we'll likely need a single payer health system to get any treatment.

It does open up a whole new can of worms....I suppose if the methods are available to determine who gets what treatment, the insurers will make a case to demand it....such as IVIG for CIDP, or CMT for the braces or the lucky type that might be helped by the progesterone antagonist.

This is one reason I think we are seeing so many, 'soft' diagnoses, such as idiopathic and myalgia....the treatment is the same, anticonvulsants, antidepressants etc. Fairly cheap, and for symptoms for many, effective. Once it gets more specific, things get more expensive in terms of intervention, unless of course, it is just braces, orthotics (not cheap but not the same cost as IVIG or cutting edge drugs).

I have to say, that I can go thru the testing. The fee cap is not unreasonable and I could pay it, not that it won't hurt the budget, it will. On the other hand, all of the CMTs are not yet recognized and I suspect, as my doc said, there will be hundreds.....so the question is, when to do it. I feel they need to narrow things down more for me to undertake the cause.

I would not encourage my kids to do it, if I have it, as my doc suspects, and we isolate which type it is.

Once 'an' individual is diagnosed in the family, you likely know what it is if some one else develops it. A few of the CMTs are more brutal, and then I imagine preconception counseling is warranted.

The concern, which no longer affects me is job discrimination and health insurance denial. Once a child is diagnosed with this, as a minor, or a person as a young adult, it will follow this person for life, and potentially the siblings, and offspring, and I am not that confident in our government to protect us from job discrimination.

It is interesting that as many as 42% of idiopathics could be genetic. They don't tell you that at the clinics. That is both good and bad, I guess.

I would bet that as technology improves, genetic testing will be required before more expensive therapies are attempted on idiopathics. After all, years of IVIG, is far more expensive then the testing for CMT.

It will be interesting to see what evolves.

And you are right, the proathlete or genius will have more resources at their disposal. Although, it appears that this testing is becoming more readily available. As an older adult, if I have it, the information is unlikely to find its way into my grown children's medical records. I am in the perfect situation to be tested, with the least negative impact on others....if I were younger, I would think twice.

If treatments such as progesterone antagonists are ultimately found to alter the course of some CMTs, then I would think that more people would want to know if they had that kind of CMT.

I just find it interesting that CMT so seldom comes up in the context of idiopathic.

Idiopathic, up to recently, has meant 'unknown' to me, not possibly genetic. To me the words, 'idiopathic OR genetic' should be offered up as explanation, not just 'idiopathic'. Then the pros and cons of pursuing hereditary causes need to be discussed with the patient.

I am sure a lot of people will opt to remain idiopathic, for a lot of good reasons, at least for the near future.

I am with you on the single payer system, and I worked in the system.

IDIOTPATHIC?
Truly to me, the phrase 'ideopathic' didn't strike fear into my being as much as it does now. IP means either truly the docs don't have a clue, or more likely they are too lazy to look beyond their noses.
About gentetic testing tho, I agree with the concerns of both of you, C and Glenn in that such testing can be and will be a medical, ethical and fincancial two-edged sword. I am wrestleing with the whole 'concept' delemma myself. The delemma is that IF it is determined that I do have genetic components to my own CIDP, I could ultimately be eligible for my IVIG thru both medicare and my supplemental plans. To qualify for the IG under medicare, it's got to be 'inherited'. I am working up the courage to be an advocate about the issue in this area, as best I can travel tho. This is a purely selfish goal tho.
More basically, and I know, Cycleops-that your circumstances are far more complicated than mine tho. IS what is so wrong with the 'MEDICAL BUSINESS" that they just have not curiousity to seek out answers? Those that HELP their patients?
So many medical professionals are soo slaggard in their approach to diagnostics if they really diagnose at all.
It scares me because we are all of the same age [kind of] and all fairly well educated and fully functional active people BEFORE this PN in all it's varieties and 'blessings'. It scares me because there are probably a dozen others for each of us who have not found this resource and are neglected, in actuallity, by their physicians. It scares me that environments we work/live or have worked/lived in could be defiinitive connections to our issues, yet no one has interest in that aspect.
I agree with you Cycleops about the genetic/family aspect. It's not an issue for me, but for my siblings and their many children and grandchildren I do have great fear to find out about genetic issues....for them.
Geesh! It's scary enough to be scared with a progressive neuropathy of any kind! To think that it's 'shared' in the genes is both amazing and spooky at the same time. I can only hope deeply that those in the genetic research fields have the ethics to control how such information is used. It's unlikely, but possible? Thing is the tools that can cure can also do the opposite. Genetics is one of those tools. History is testament to that. And will be again.
Every single day I wake up and am able to get up, I count my blessings, as most of you all do in that I CAN get up! [I Believe BobB had a quote to that effect, it's stuck in my mind and helps keep me going! Thanks Bob for that quote]
Dealing in the here and now tho...treatment of symptoms is the norm. The only norm! We have to deal the cards we are dealt, and play them the best we can to get better treatments than are currently available. Prudent review of any medications, treatments and therapies are now our only defences against quackery, indifference or malparactice.
I sure wish it were different? Hugs to all! - j

Idiopathic means the doctor is a pathetic idiot and can't figure out what's wrong with you!!!

Dorothy

j., I've forgotten the quote (must've been a while ago) , but that's the general idea. Dorothy, I'm with YOU !!

You guys made me smile....

I have always found that the 'idio' in that word does lend itself to your interpretation.

Honestly, there are ways of ferreting out what is causing neuropathy in most people. The cost of ferreting it out, is, in the long run, less than treating what is NOT the cause of the neuropathy...(been there and racked up some substantial bills for unwarranted treatment) At the time it seemed logical...

'If you hear hooves, don't think zebras" That is the medical herd mentality that ends up costing every one money and agony. By the time most of us get to research facilities, zebras are all that are left....as it should be.

I am not idiopathic. I don't think any one with this condition or any other medical condition has it 'just because'.....that sounds too much like the reasoning my parents used, when they wanted to exert control...and put me in my place, which on some days, I needed.

I am 'some kind of autsomal dominant hereditary', which isn't far removed from idiopathic, given the explosion of the human genome, we need to whittle this pathology down a bit more before we big potshotting a bunch of gene loci. It is not reasonable to say to a doctor, find my oddball genes....you at least need the neighborhood.

That takes several individuals, mostly from abroad but educated here, to sit for hours in front of electron microscopes and data bases, and endless, upon endless combinations of CTGA and or U, depending on DNA or RNA...or you can do some of the footwork yourself.

I am not complaining because, I think some pretty good efforts have been made to pinpoint this oddball combo of alphabet soup I have....(must be chicken noodle mixed in.) I have good reason to expect things will actually proceed a bit faster for me now...of course, I got 'sicker', which always help to light the way....I think we are now on the right path to minimize the damage that this entity can cause....provided I get the 'right' ICD-9 code.

I don't expect any one's premiums to reflect searching hundreds of thousands of base pairs unless it will benefit more humanity than myself and my progeny when kids in Africa die for lack of a bed net or basic vacinations....just as I don't expect any one's premiums to reflect useless treatment that could have been used for genetic testing or the appropriate 'adaptive' devices to make life worth living.

I am all for symptomatic treatment, however not at the expense of omitting the necessary diagnostics that predict disability or give prognosis, and a chance at preventing further pathology...


I am a zebra (unless I am a unicorn, and then we all know that means never finding out what I really am---I will amount to that one disease you see on neuro.wustl, and when you look at the incidence it says, 'one' or 'one family' in some obscure province if I am very, very 'lucky').

I roughly, know what color family my stripes are, but it will take a bit more to confirm the shade and tone....right now it is cheaper to have me settle for idiopathic, as then I can not draw on funds from certain non-profit groups that assist folks like me (and I need the help, even with insurance).

Kinda sad, as those organizations offer help with exactly what I need, and countless other 'idiopathics' need...For me, it is just a matter of time, months to a year or so, to get it all settled.....and likely my insurance will bite it. In the meantime, it isn't easy to watch joints deform or bones fracture, nor to grow weaker due to not enough ambulation.... That may happen anyway, despite all my efforts, some of which I feel are gargantuan.

I am lucky to be insured, have a bit of spare cash, not much mind you... every one is not so fortunate. I have family members not so fortunate....and me doing their groundwork saves every one, even you premium payers money...

No one wants us 'idiopathics', perhaps it is in the name 'idio'....or perhaps 'pathic' which bears too much resemblance to pathetic.

So, moral of my tale....I always have a tale, and I am working on the morals, you know...I can't seem to get to the point of anything without metaphor or analogy. (By the way I got published last week, LOL)...humor article.

My moral, it is worth the fight, not to be idiopathic....unfortunately you must do a great deal of digging on your own....be your own medical Indiana Jones. When you whittle it down enough, then you have to ask for the specific diagnostics.

In the mean time be wary of treatments that are not helpful, or are hurtful....

keep looking, even if it does at times seem obsessive....

counter that with doing something wild and crazy.

You can research your condition without being your condition....

you can challenge your condition akin to climbing Everest somedays.

There is a quote, 'Do something every day that scares you.' I like that quote....some days it is scary to walk to the mailbox....other days I can traverse hill and dale. Somethings like unassisted skiing would be moronic, not inspiring. I have matured.

Most days I find it therapuetic to scare myself, albeit, lately in a safe way...

Oh, and I am very careful not to acquire any bad karma while either researching OR while frightening myself into mental health, lest my disease get worse.

I no longer think HORSES, or ZEBRAS.
I think [Przewalski's horse]
http://nationalzoo.si.edu/Animals/As...act-phorse.cfm
You are soo right about being your own Indiana Jones? Thing is, we want to scream, shout and pound our docs with what WE see as facts...and they do not want to hear us or care or just do not know and won't admit it? Unless you find one doc you can twiggle the curiousity with.

I too am lucky that my insurance covers my conditions and treatments. I do live in an apprehension daily that next month they won't. It is written into the plan 'description' that they can. Tho not without adequate notices. Of course their definition of 'adequate' and mine differ a bit?

'NOt being your condition, and challenging your condition' are keys to LIVING with any condition and often conditions. Learning as much as you can, and then trying to do some things about it USING the 'systems' we have to work in/with is key to getting the best we can out of what is given us to work with. As many know, tho, the other 'players' in this endeavour [doctors and insurances] don't always play fair or knowledgeably.

Bob, go back about 2 years and you will find that 'quote'...I've loved it and and appreciate it daily! It's often given me courage to get out of bed and look for GOOD things to be found [if they can be found].

On we go to attempt to slay more dragons! With many of us, we've other medical issues that complicate it all.....different dragons, so to speak, to slay! - j

Hey! Life does go on, with us or without us...better with us! I say!

This has been wonderful...Thanks was trying to read it to my nurse,
had us both laughing and crying. Hugs All Sue

I'm slaying my dragons!! The very first diagnosis I got was idiopathic. I'm just not a person to live with the unknown. I've always had to have the answer to my questions. Drove my grandpa mad.

Idiopathic is pathetic. Don't settle for it. Even if you can't find the reason, you will know in your heart that you tried every single thing you could do to beat the beast. I battle every single day with a disease that has no cure. But everything they find from my body will be one more thing they know that will eventually help someone else.

Cyclops, I did something this week that scared me. I drove again for the first time since breaking my pelvis. I just refuse to give up and give in to this disease. I just think that if I keep trying I can do it whatever it is. It's too easy to give in and agree with a doctor who has halfway done his job by labeling you "idiopathic". I have a diagnosis now and if a cure becomes available....at least I will know that the cure is for me and will not be one of the people setting on the sidelines saying "That cure won't help me, I'm idiopathic".

Billye