Re: HNPP

[Guest guest]

In a message dated 1/2/2001 11:34:21 AM Eastern Standard Time,

edwinrmore@... writes:

<< Hope this

helps - EdM

>>

Ed

Appreciate your post. I have been reading more about HNPP, not sure about it

is why I'm asking all you guys. I've always had the weakness associated with

CMT, since young childhood. Falling, not being able to run, climb monkey

bars, push ups, etc. I could go on and on. I've also always had weakness

after leaning on elbows or wrists. This is getting worse. Leaning on the

wrist for a few seconds, and I have difficulty straightening the hand back to

its normal position. This is why I'm asking. I really don't have any doubts

about the CMT, but am wondering if others have the same problems. The wrists

and hands are hurting really bad lately, I can't stay on the computer but a

few minutes if I am using the mouse, because of numbness. The neurontin was

making the numbness worse. I was waking in the middle of the night, hands

numb and hurting. Went off neurontin, they are not as bad, at least not

waking me up. Driving is getting harder since the hands go numb. Classic

symptom of Carpel Tunnel, but in both hands. Guess this is something I can

discuss with doc. Also, going to find out if my insurance will pay for Athena

to do the labwork. I'll know more after next week. Appreciate all you guys

and your suggestions. I'm here to learn, and believe me, I am learning.

[Guest guest]

Hi and the Group,

I have HNPP as Dx'ed by Athena Labs Blood DNA test confirmation. Also, I

present with all of the deformities and symptoms exhibited by CMT-1A. I

wrote a similar note about this a few weeks ago. CMT-1A is a duplication of

allel at PMP-22 while HNPP is a deletion of an allel at PMP-22. Can you have

both simultaneously ? Well, you have two allels at the site , one from each

parent and I suppose one parent could have CMT-1A and the other HNPP thus

giving you a deletion on one side and a multiple on the other side, but

statiscally that is probably a very low probable event. Second, could you

have a deletion at PMP-22 and another defect at another site which would

produce another type of CMT ? Maybe so, but again probably a statistcally

low event as well. So, how do you know - run the Athena Labs DNA analysis

and get the 5 known types covered first. If HNPP is there by itself then you

could have the other symptoms as well like me. They used to think HNPP had

no deformities etc. but that is changing along with the notion that it is

rare even in CMT-land. As for the other types yet to have DNA testable sites

available, that's a need for other DX skills. As far as I'm concerned, any

partial nerve deterioration can be subject to times of lessened performance

which could produce numbness, weakness, and other malfunction. Hope this

helps - EdM

-----Original Message-----

From: ktbugg54@... <ktbugg54@...>

egroups <egroups>

Date: Tuesday, January 02, 2001 10:08 AM

Subject: [] HNPP

>Hopefully some of you can enlighten me. Do any of you have the symptoms of

>HNPP. I had never paid much attention to it, just thought it was the CMT,

but

>I do have symptoms of HNPP, such as leaning on elbows or hands, crossing

>legs. These things are and have always been very hard for me, since they

make

>my hands and legs go numb quicker.Even though my daughter and I were dx

>several years ago through EMG/NCV as having CMT and do have all the

symptoms

>of CMT, I've been reading on CMTI and things are looking more like HNPP. Is

>it possible to have both, I know they are very much alike. I'm having

another

>EMG/NCV next Monday, think I'll bring this up to the doc. Would appreciate

>any comments from all you more informed CMTers.

>

>

>