If CMT bloodwork came up negative, then what?

Hi Lori

You are the first person that I’ve seen post about CMT and CIDP together. Granted, I’m really new to this…

I think we must have some special bond — I have a sister, Lori, a son with type 1 diabetes and hashimotos, and a family full of CMT! AND I went to my neurologist to confirm the CMT and came away with a diagnosis of CIDP and a round of IVIG.

Am curious about what this means: Our 2 years olds partial CMT came back negative for the gene mutation underlying CIDP. How did you suspect partial CMT?

Lori,

I was just thinking about you guys the other day. I was hoping that you would post an update on Dell.

Here is a link to info on CMT which stands for Charcot Marie Tooth.
[url]http://www.mdausa.org/disease/cmt.html[/url]

It’s a different disease then CIDP but in the same kind of category. Just because you don’t test positive for it doesn’t mean that you don’t have CIDP. Lots of people can get CIDP without the gene mutation.

What does the dr say about the test results? How’s Dell’s neck doing?

Well Emi needs to get on the computer to play a game & I need to get some house work done so I’ll check back in later. I know it’s hard to go through this but just keep researching & trying to find the answers. I truly believe that they are out there.

Kelly

[QUOTE=Dells mom]Our 2 years olds partial CMT came back negative for the gene mutation underlying CIDP. [/QUOTE]

Hi Lori, I am very curious about this [U]gene mutation underlying CIDP[/U] you mentioned. Do you have any references for that or is that what your doctor told you?? Up until now the only thing I found is a [U]theory [/U]that CIDP is triggered by something plus a [U]genetic disposition[/U]. I never heard about a test.

When I went to my neuro for the first time 6/05 he immediately thought it was CIDP. However, he first wanted me to be tested to see if it was CMT(inherited) or CIDP(acquired). He didn’t want to start treatment until the results were back. You’re right Lori, It took forever to get them back. Athena did mine too. Mine came back negative which meant it was acquired and we started treatment the next week with IVIG. CIDP is usually seen in people who have immune deficiency-they tend to get more infections which ups their chance for autoimmune diseases(That’s how it was explained to me). Strange though, that it may occur in families. Just when I think I have a pretty good grasp on it—–I don’t! take care, Vicki

hi all, in medscape this week they have an article about the tests and the proteins job and how this means that and so on. it is under the ra article. i read it and thought it was rather interesting. now it makes me want to call the hospital that did all that fancy testing on me back when i was pregnant with my first child to see what i might be secepitable to. wow why didn’t my drs think of that?!:rolleyes:

Lori/Kelly,

What is usually passed on is a genetic pre-disposition for autoimmune diseases in general. If you do a search you should find some other posts we have about this. I am not aware of the CMT test but even if that comes back clean, that doesn’t mean in the future that some other autoimmune disease might not come up. Now that you both have autoimmune diseases in your family you should just keep an eye out for stuff. My first autoimmune disease didn’t show up until I was 18 and I have many relatives on my moms side with autoimmune issues. Email me if you have any questions or whatever, you both know you can anytime.

Jerimy

Vicki, not really. CIDP is not an immune deficiency disease (HIV AIDS is) people with CIDP/GBS are not more liable to infection. They are diseases of over active immune systems where some antibodies develop that destroy our own peripheral nerve tissue, specifically the insulating coat of myelin.

Dell’s mum CMT or Charcot-Marie-Tooth sometimes shows an abnormal gene at chromosome 17 and sometimes not, it is not an auto-immune disease.

Norb. CIDP does not show abnormal genes it is not a genetic disorder, it is acquired though at present, while we know the triggers in about 50% of GBS the triggers for CIDP are unknown. DocDavid

I have to chime in here! It appears that I have both CIPD and CMT, and my neurologist suggests that these diseases are being diagnosed together more frequently.

DocDavid, there is a correlation with immunodeficiency and autoimmune disease, and scientists are identifying genetic markers for autoimmune diseases — at least for a predisposition to autoimmune disease. Celiac Disease (CD) comes to mind as a good example. Routine screening for CD looks for autoantibodies specifically linked to IgA, but its well-recoginized that MANY people with CD are IgA deficient, so IgA is tested, too. On top of that, scientists have identified a specific gene that is common to people with CD.

I wonder how many of us have had screening tests for immunoglobulins? I know I haven’t. My son has — he has two autoimmune conditions and is below the lab ranges for IgA, IgG and IgM.

O.k., I found the information given to me, and put in my previous post, under the CIDPUSA foundation. It did say it is usually seen in people who have immune deficiency. Also that people that have immune deficiency have more autoimmune diseases. Now I’m really confused!!!! Vicki

There is some research that suggests there is a genetic anomaly in at least some CIDP patients. It was presented as a poster at the AAN conference in San Diego in April 2006: “[B][FONT=CenturySchoolbook-Bold]P01.133 [/FONT][/B][FONT=CenturySchoolbook]CD1e Polymorphism Is Associated with Increased Incidence of CIDP” — Grace Lee, Thomas H. Brannagan, Russell L. Chin, Howard Sander, David Latov, Norman Latov. That is not to say that CIDP is a genetic disease as we normally think of them. It suggests though that there is a genetic predisposition and helps identify where that predisposition resides.[/FONT]

DocBod, is it really so much that the immune system is overactive, or just that it is inappropriately active?

There is a some literature that investigates CIDP in AIDS patients. It would seem unlikely that a suppressed immune system should lead to CIDP, but apparently it does. My speculation, though not particularly original or insightful, is that in immunodeficiency, the feedback loops that keep us from developing autoimmune disease are damaged. Whether that same sort of damage is present in autoimmune diseases not from immunodeficiency remains to be seen. Where is Threads when you need an intelligent comment on immunology?

MarkEns

[QUOTE=DavidBod]Norb. CIDP does not show abnormal genes it is not a genetic disorder, it is acquired though at present, while we know the triggers in about 50% of GBS the triggers for CIDP are unknown. DocDavid[/QUOTE]

DocDavid, I was referring to one of the more popular theories of the underlying mechanics of auto-immune diseases, molecular mimicry, which according to some scientists includes a hereditary predisposition – but not a genetic defect. I just found an interesting write-up at “www.mult-sclerosis.org/MolecularMimicry.html”.

The genetic connection is not mentioned there directly. Here is the way I understand it: T-Helper cells have receptors called HLA which are the ones presenting parts of an antigen and – if a match is found – activate an immune response. Some antigens may have a stretch of amino-acids identical to a part of the myelin. This triggers the auto-immune reaction. Hepatits B has been found to be one of those antigens (Fujinami and Oldstone at Scripps Research Institute). Now, fortunately most people do not get this kind of reaction. The reason is that HLA molecules are different from person to person, a normal variation and not a genetic flaw.

L. Steinman explains in an article on auto-immune diseases (“Life, Death and the Immune System”) why not everybody mounts an immune response to myelin basic protein and develops MS (as an example – my comment): “The reason seems to rest for the most part with the differences in individuals’ HLA types. The HLA molecule determines exactly which fragments of a pathogen are displayed on the cell surface for presentation to T cells. One individual’s HLA structure may bind a self-mimicking fragment and present it to the immune system, whereas another’s may bind a fragment unique to the pathogen that does not mimick self. In the latter case, the pathogen is attacked, but self-tolerance is not violated.”

Here the graph which follows this paragraph.

[IMG]http://img245.imageshack.us/img245/7743/autoimmunityln2.jpg[/IMG]

[QUOTE=DavidBod]Norb. CIDP does not show abnormal genes it is not a genetic disorder, it is acquired though at present, while we know the triggers in about 50% of GBS the triggers for CIDP are unknown. DocDavid[/QUOTE]

DocDavid, I was referring to one of the more popular theories of the underlying mechanics of auto-immune diseases, molecular mimicry, which according to some scientists includes a hereditary predisposition – but not a genetic defect. I just found an interesting write-up at “www.mult-sclerosis.org/MolecularMimicry.html”.

The genetic connection is not mentioned there directly. Here is the way I understand it: T-Helper cells have receptors called HLA which are the ones presenting parts of an antigen and – if a match is found – activate an immune response. Some antigens may have a stretch of amino-acids identical to a part of the myelin. This triggers the auto-immune reaction. Hepatits B has been found to be one of those antigens (Fujinami and Oldstone at Scripps Research Institute). Now, fortunately most people do not get this kind of reaction. The reason is that HLA molecules are different from person to person, a normal variation and not a genetic flaw.

L. Steinman explains in an article on auto-immune diseases (“Life, Death and the Immune System”) why not everybody mounts an immune response to myelin basic protein and develops MS (as an example – my comment): “The reason seems to rest for the most part with the differences in individuals’ HLA types. The HLA molecule determines exactly which fragments of a pathogen are displayed on the cell surface for presentation to T cells. One individual’s HLA structure may bind a self-mimicking fragment and present it to the immune system, whereas another’s may bind a fragment unique to the pathogen that does not mimick self. In the latter case, the pathogen is attacked, but self-tolerance is not violated.”

Here the graph which follows this paragraph.

[IMG]http://www.ourbluemarble.us/forum/Autoimmunity.jpg[/IMG]