NeuroTalk Support Groups - Help with CMT, please.

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Hi Leaf (good handle!).

The more I learn the more there is to learn! No hearing loss as far as I can tell, but the bells are still ringing (more like buzzing) at night!

I have been doing a lot of reading with Kitts information; and, I'm leaning toward HNPP myself. It just seems to fit better. I can't wait to get in and see my doctor to ask my ever growing list of questions. I shall add a question re: auditory issues.

One thing seems to be a constant ... the symptoms are ever changing and presents so widely from person to person.

Di

I have excellent hearing and so did my Mom and those before her. Loss of hearing can be due to many things as Leaf pointed out. We are not immune to anything just because we have CMT.

And, as I said before, CMT is on the same chromosome as HNPP. CMT is a duplication and HNPP is a deletion. Eventually the damage from the episodes of HNPP gets worse and worse over time. The damage from HNPP progresses like CMT does. Symptoms vary greatly even within the same family.

Thanks Di. I hope you get some answers soon. Keep us posted.

Hi Di,

I'm not sure it would be worth mentioning the auditory issues until any deafness becomes noticeable, if it ever does. Some people suffer from tinnitus but never develop any hearing impairment. If there's measurable deafness then it might be worth pursuing further investigations, whatever the suspected cause.
Your time with the Doctor might be limited so it might be best to stick to known symptoms.

Hope all goes well,

Jon

Hello all.

If I understand HNPP correctly it is the opposite of CMT 1a - 1a being a duplication and HNPP being the deletion.

Can I be correct in assuming that if you were tested for the duplication in 1a they would have noticed the deletion for HNPP at the time of testing?

Hi,

They have to specifically test for HNPP just like they have to test for each specific type of CMT, etc. Hope this helps.

Hello everyone!

I met with my neurologist yesterday and have received the results .... 3 copies of the PMP22 gene. So CMT Type 1 A is confirmed. I will be referred for genetic counselling (my genes deserve to be sent to counselling for turning on me this way! :) "concerning the implications of these results to me and my family" . I am to have my son tested. I have checked with everyone else in my family and no one else seems to be displaying symptoms; but they know what to look out for.

Basic info: No meds as there is no cure. To help combat symptoms and stay strong: moderate but regular exercise, eating healthy, don't gain weight. I have a follow up appointment in one year to see where I am at that point.

I am now in the process of trying to put together a supplement regimen that will help with the symptoms. Any one who cares to send a "top 3" list is welcomed to do so and thanked in advance. (The lists I have put together from Kitt and other sources is a very long one .... how to choose?).

I guess that's it for now. Oh .... I have always been a multi-tasking "A" type personality, so I'm going peri-menopausal at the same time. Yeah. Hot flashes and all. They seem to "turn on the lights" re: my neuropathy. I figure I should feel just great in 10 - 15 years!

Di

Thanks for letting us know Di. At least you have a diagnosis now. Is your son having symptoms? I can't remember if you said.

As for others in the family, as I've posted before, symptoms of CMT can become evident when you are young, old, or in-between. Or they might not be that evident at all. Symptoms vary greatly even within the same family. So who knows what will/might turn up in your family. It came from somewhere in the family as that's how CMT1A is passed on. 50/50% chance for each child to have it passed to them.

Remember, there is no magic bullet or supplement for symptoms of CMT. Just eat healthy, regular exercise but not too much (your body will tell you), stay away from stress as much as possible, etc.

http://www.charcot-marie-tooth.org/a.../treatment.php

Take care and keep us posted.