[Grizabella]

Is there a name for peripheral neuropathy that's genetically caused? My neurologist says mine is genetic. Maybe there's more than one name, but I hope some people can give me input. It would be nice to meet some people with the same condition, too.

[mrsD]

Charcot Marie Tooth is the only one I know of with a name.
There are many many subtypes of this.

There are other suspects though, but I don't think they have names yet or can be tested for yet.

[Kitt]

Besides Charcot-Marie-Tooth disease (CMT) many types and subtypes, there is Fredreich's Ataxia and Dejerine-Sottas Disease (recessive form can be called CMT4F). Not certain if there are others.

There are 22 + types of CMT that they now have DNA blood testing for. And there are over 50 types they have identified so far and there is no end in sight.

What kind of genetic neuropathy do you have? What is the name?

[BEGLET]

Hi Grizabella - I have by process of elimination of years of tests - what the docs are calling Hereditary Sensory Autonomic and Motor Neuropathy - there is no genetic test for it yet - Boston Gen is working on one now... There is very similar form that does have a test - HSANII - (just doesnt include the Motor Invovlement) - so they are getting there with the tests..... takes a long time.... I hope they can isolate yours

[Kitt]

I found it in the 50 identified so far and no end in sight and no DNA blood test for it yet. This is listed in my CMT information. It is under HSAN: Hereditary Sensory and Autonomic Neuropathy. This one does say HSAN1. And it says that this one has genes for which genetic testing is available.

[glenntaj]

--is the most comprehensive set of listings of hereditary neuropathy syndromes (and other genetic conditions that might be confused with hereditary neuropathy) I've yet seen:

http://neuromuscular.wustl.edu/time/hsn.htm

http://neuromuscular.wustl.edu/time/hmsn.html

http://neuromuscular.wustl.edu/synmot.html

[BEGLET]

Hi again,

There are so many types of inherited PN yet to be identified (yes, there are tests for CMT - some types, HNPP, some forms of HSN an HSAN etc...) - the trick is trying to nail them all down... I've been asked to have family members participate and get tested by docs who were trying to insolate the speicific mutation - but they are afraid of needles, etc... I think its more of the disease actually that is causing the fear.... but in any case - based on your response to meds, known family history, severity and progresision of the disease, biopsies, other tests etc. can give them very good clue to whether PN is inherited or not. This can help of course with any possible treatment, or at least prognosis as to what you can expect for the course of the disease. Also, IVIG may help some with inherited PN. In any case - they may learn from you if its a type not yet identified.... and be able to help other patients and family in the future...

[Kitt]

I understand that IVIG therapy is for "autoimmune" diseases. CMT, for one, is inherited and IVIG treatments are not for CMT. Maybe it helps other kinds of inherited diseases - IDK.

Hope you find some answers.

[BEGLET]

HI again, I have no auto-immune markers - but the PN did launch following a bad respiratory infection... I know medicare wouldnt have paid for it if the doc didnt have justification - and for some reason it does work on some inherited PN's - maybe if they are heightened by auto-immune trigger? I'll try to find the source!

[Grizabella]

The Oregon Health Plan won't cover genetic testing because it's so expensive but the neurologist has decided that mine is genetic because it's not diabetic or any other cause he can find. Maybe also because it's receded from causing numbness clear up to my knees and a lot of falling down back down to numbness only to my ankles and no falling just by using 5mg. of prednisone a day. Instead of progressing very quickly like before I took prednisone, it's now stable as of my last visit to him earlier this month. I have a lot of pain and burning if I'm not on my medication strictly, and I don't have good balance. I also can't be up on my feet a lot. But at least now it's not getting worse real fast like it was.

So I was just wondering if there was some kind of name for the genetic kind. I guess it's not that simple.

Oh, and Charcot Marie Tooth was mentioned as early as 20 years ago when I first got sick and then again recently.