Hello KD Folks! Pecan harvest went well this year and we are wrapping up shipping to our buyers as I type this note. I learned something new from the Mayo Clinic in Minnesota that I thought would be interesting to many of you and your moms,wives, and others. I was told that 2 women in the world have full blown KD and that doctors consider them to be rare. We as a community have understood that women can only get some symptoms but alas, 2 gals have it. So, with that why are women and their symptoms not getting the attention that males get? I know that there is no cure but still we could be at the very least treated as though we are not crazy! I was sent to Mayo for swallowing problems and muscle testing. I got very sick and could not travel back for continued testing. I will go back in the near future as I am feeling better. I know that women are not going to the Mayo presenting any symptoms yet as a group. But maybe someone should think about clinical trials or testing the KD carriers. Just a thought.

Lori, I agree that any woman with family history should have the right to get the same tests. We are so sure my mother-in-law had symptoms but she refused to believe that her son has Kennedy's so there was no helping her. Our local MDA said they would see/treat her too but she refused.

Lori, it has been explained to me that carries with "two" defective "X" chromosomes have most of the symptoms of a male. It is very rare and hardly heard of, however.

It was also explained to me that women do not produce the same levels of testosterone that males do and that is why their symptoms are usually mild and later onset.

My mother, a carrier, had leg weakness, hand tremors, and difficulty swallowing. These symptoms began showing up in the late sixties and continued to progress until her death at 92.

I believe the focus has been on the males because testosterone is the catalyst. Therefore the progression is much more pronounced. Besides, women are just tougher than men.

Bruce,

You are correct in that there have been two cases in which women are homozygous for KD (meaning that both copies of their AR gene are the mutant (KD) form). HOever, these women did not have the major signs or symptoms associated with KD (see http://www.neurology.org/content/59/5/770.abstract) and had similar symptoms/signs as did carriers.

More in line with the theme of this thread, I do not think anyone is trying to say that women carriers do not have symptoms, just that their symptoms are much milder and slower to progress. I cannot speak for what the doctors at the Mayo clinic said, but as far as I know, there is no reported case of a woman having "full blown" KD. Such a finding would be published and there is no such paper that I know of. I would guess that the doctors were referring to the two homozygous women described in the paper I referenced above and not about women with KD.

As far as our current understanding goes, one must have two conditions to have KD; a copy of the mutant form of the AR gene and high testosterone levels. Carriers only have the former and without the latter, the symptoms will be less severe than in men. Different women have different levels of testosterone (but typically much lower than men) and it would appear that even this low level could cause the effects that seem to be felt by carriers.

With regard to why there are no clinical trials for women, I would guess that is primarily due to the lack of severe symptoms and the slow onset of the symptoms. It is difficult enough to try to determine the efficacy of a treatment with the men who have a faster progression and more severe symptoms. It would be almost impossible to identify success in carriers. It is hoped that if a treatment is discovered that works for men, it may also work with carriers.

I hope that I was clear, if not, please respond and I will try to explain in a more clear manner.