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.......