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Old 10-20-2006, 05:58 AM
leaf leaf is offline
Community Member
Join Date: Oct 2006
Location: Bristol UK
Posts: 45

I would imagine your neuro should be able to make a diagnosis based on your symptoms, ncv/emg, and such a strong family history. It certainly sounds like HNPP.

I suppose I was tested because it seemed to pop out of nowhere, that is I have no obvious family history. I think there possibly are some family members with hnpp, but very mild, some even believe I'm making it up, such is the level of denial. I'm still convinced that its just become a part of family culture that often symptoms are accepted as normal. I honestly thought that everyone had dead arms in the morning, or a foot which goes to 'sleep' if crossing legs or sitting on it... etc etc..
However it could be that I am a new mutation, the first in the line, but that is quite rare. My doctors have suggested this.

I've got a good AFO, its a spiral type, made from composite material, so it's really light and strong.

I havent heard of symptoms getting progressively worse with successive generations, as far as I know it shouldn't do that. Some of the current research does suggest that other genes not in the deleted region may alter the presentation, a small mutation elsewhere which would normally not cause disease does so when coupled with the Hnpp deletion. It's suggested that this may be the reason for such variability in symptoms. I must look for the reference for this, I think it was James Lupski's hypothesis, he was partly responsible for discovering the mechanism of the Hnpp deletion in 1993.

HNPP - Hereditary Neuropathy with liabilty to pressure palsy.
HNPP UK Links and Info
Hnpp Info page : CMTA : CMT UK
Inner Ear Disease
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