I am confused about the implications of a 30 countI know that I will not develope symptoms but, I was just reading in a thread that the 30 count could be passed down through the generations and jump. I thought that my children were not at risk...I am very confused!



Edited 2 time(s). Last edit at 05/08/2007 09:43PM by katie.

Yes Katie, with a count of 30, they should have explained the implications to you. I would think it could take several generations for it to expand to 40, but definitely you should have been told more than you were. Sorry Katie.

Katie, here's the latest information about intermediate counts.
[www.hdlighthouse.org]

thanks, for the information. That site was helpful. Things were explained to me, but not in great detail concerning the passing to my kids. I will do more research. Although the more research I do, the more confused I am...the information really seams to differ.

Hi Katie,
We are in the same situation as you.

My husbands cag count came back as 30/31.

Yes it could expand,but I am led to believe more from the male side than female.The problem is who knows.We were told when my husband results where told to him that our child had a 5% chance of the gene expanding.

Even know you test in the intermediate range its still on your mind what if the count jumps higher.

Take care
Julie

On my test result letter it gives me my neg result and then at the bottom it says Results and Interpretation:
Normal individuals in our population have alleles in the 8 - 35 CAG repeat range.
A repeat size of 36 repeats or greater is diagnostic of HD.
Alleles between 36 and 39 repeats frequently associated with later onset and symptoms.
Alleles between 27 and 35 repeats are potentially unstable and rare expansions into the affected range have been seen.

Im sure i read somewhere that if it was in that last range there would be a less than 2% risk to the persons children

This is what my husbands results says

Normal range <36

27-35 repeats may show meiotic instability & an expansion into the affected range during transmission to offspring may occur.

36-39 zone of reduce penetrance excits between 36-39,where some individuals remain asymptomatic.

Thanks for the update, Marsha.

"CAG repeats are usually followed by a CAA codon. But in two families identified so far, there's a point mutation and the CAA has been replaced by another CAG repeat. This makes the CAG repeats more likely to expand"

I hadn't realized that!

hi katie my cag count was 35 i also wasnt told about this either,my hole point of getin tested was so i knew if my kids could be free of this,but as u know nothin runs smooth for us.take care hope things get better soon

Thank you for everyones information, it was very helpful. I am sorry to anyone who is facing HD as a possibility for themselves and their children.
It wasn't explained to me thoroughly, but at the time I also didn't retain much information either.
Thanks Julie, JL, Lou_22, billy and Marsha.