Cmt
 

There have been occasions where I've thought about the genetic disease charcot Marie tooth as the cause of my symptoms. The variant CMT2 is axonal so wouldn't necessarily show on a nerve conduction test. (mine are always clear). I've got hell fire sensory symptoms for sure and I have what I believe are motor nerve symptoms and hunting for the 'proof'. The reason I thought about it more is because my mum and her side of the family have hammer horror feet! It was always a joke that the family on that side had hammer time toes. But when I saw that some of the manifestations can be hammer feet I have sometimes worried that is the cause, that possibly my mum was a carrier (no one else has nerve or muscle symptoms like me, only the hammer toe look). I understand from reading that it's not easy to diagnosis cmt as there are numerous genes involved.
Does anyone here have a diagnosis of Cmt type 2- also referred to as hereditary sensory and motor neuropathy. I believe this type is only axonal as opposed to demylinating.

CMT was ruled out for me with genetic testing.

Have you had the genetic testing yet?

I'm curious.

Hugs, ElaineD

Hi Elaine, apologies for the long delay. I've been off Neurotalk all Christmas and New Year.
I don't know how to pursue testing. It's not readily offered here on the NHS. Was this covered by your insurance? I'm not sure where to begin as I understand the testing has numerous limitations. I can't afford to pay out significant amounts.
I mentioned ehlers danlos to my rheumy but she advised against pursuing it. I do value my new rheumys view point. I understand that testing for this is confusing and limited. I don't understand if and how genetically inherited disorders like CMT and EDS relate to autoimmunity. I have autoimmune problems outside of the Sfn.

Hi JoannaP79:

I have a Medicare plan that pays for anything and everything. So I get every test possible. Maybe a good thing, maybe not so good.

The thing about CMT, which I don't have, is that it can't be stopped or treated. So, personally, I wouldn't have bothered with the test, but it was ordered and I had it.

When I was tested, some genetic 'anomaly', not related to CMT, showed up, so the Rheumatologist that ordered the CMT test sent me to a geneticist. She said that the 'anomaly' was unknown as to effect, and so I should just ignore it.

When you reach the frontiers of Immune Disorders, as you have, you begin to appreciate how much is unknown. My husband is a research Immunologist and would be the first the tell you that not only do we not know how the system works, but attempts to 'control' the system would probably only lead to further problems.

Here is a link to the CMT Association:

What is CMT? | Charcot-Marie-Tooth Association

Hugs, ElaineD

Thanks Elaine, that's helpful. It's quite soul destroying to realise how little anyone knows about autoimmunity and control of it. I came to realise this more recently. Hope has pretty much gone as a result. Does your husband know why we know so little about autoimmunity? Is it because of research funding limitations? Something to do with pharmaceutical motives? Knowing how fast technological advances have been made over the past ten years, I cannot believe that we know so little about this. Inflammation and autoimmunity are behind so very many of people's ills.

I read that cmt cannot be managed at all. Many types of it sound absolutely brutal. But nerve damage is brutal isn't it.
I would like to have an idea of the future which is why I just need so badly to know. Is this going to be a wheelchair situation pretty soon? Will my motor functions go. Will I be unable to care for my son and how soon will this happen, what will I do if that happens. Do I need to think about my son and risks that he may have this. I am desperate to know even if it can't be managed because I need to make plans for possible outcomes. I want something I can mentally grip onto and get my head around.
Thank you for the cmt link, it's really useful info.

Contact nearest MDA clinic .there are at least 30 variations. MDA did mine for free