I keep hearing all sorts of different info on Women Carriers or their supposed mild symptoms. If a woman tests positive as a carrier and then starts to exhibit all symptoms moderate to severe, instead of mild, than would'nt this mean she has the actual disease and not just a carrier. I know it's rare but I read Women can actually have it also, even though rare, it is possible.

I've always been curious about this. I myself feel as though I already notice some symptoms similar to the ones my dad had when he first started to notice his KD and I'm only 25. This makes me wonder if as I get older my symptoms could potentially become more severe since KD tends to get worse with age. I realize I'm considered to only be a carrier but they say the amount of repeats often increases from generation to generation and the more repeats you have the more severe the KD so therefore could that also mean the more repeats the more it can affect a carrier as well?

On the "Open Topic" section of this Forum, there is a thread called "Any females that have this?" where this subject was discussed very extensively a few years ago. I think it's fair to say the conclusion was that women can get KD but it's extremely rare, requiring two copies of the defective gene, which is called homozygous.

On the question of women having symptoms, please keep in mind that some KD symptoms mimic normal aging. Lots of people have sore muscles and cramps as they get older. I don't think a doctor would diagnose KD unless you had most of the symptoms (including fasciculations, hand tremors, etc.), AND a positive genetic test.

Just a quick note that women with two copies of the defective gene for KD have been studied and their symptoms are essentially the same as simple carriers (http://www.ncbi.nlm.nih.gov/pubmed/12221177) - they did not experience the major symptoms found in men. It appears that the reason women do not usually exhibit the major symptoms is due to their low androgen levels.

I'm going to weigh in here and I hope I don't ruffle any feathers, but why is "having" Kennedy's disease dependent on both having the mutated gene and severity of symptoms?

It seems to me that having the defective gene should be the only criteria. Afterall, the severity of symptoms in men who have the defective gene varies greatly and by saying that the diagnosis of the disease is dependent on having the defective gene and gender does a huge disservice to our mothers, sisters, and daughters who also have the mutated gene.

Granted, the symptoms of women may be milder and present at an older age than men, but they are symptoms just the same and affect quality of life.

I know that a couple of years ago, my mom kept complaining of severe leg cramps and shakiness in her hands. It took me six months to convince her to go to a neurologist and have the genetic test. When she finally went, the neurologist was very rude and refused to do the test, saying, "Your symptoms are nothing compared to what your son is going through." My mother was very embarrassed and no longer talks to me about her health.

I think that the medical community should acknowledge that KD affects men and women, with women usually having milder symptoms and later onset.

Again I hope my post does not offend anyone.

Jim, good to hear from you. Everyone has a right to an opinion.

I believe the question that was asked concerns the severity of the symptoms in a woman. I believe the initial thought that there was a difference between a woman being a carrier and a woman experiencing more severe symptoms.

Having the defective gene means you have Kennedy's Disease. And, like all of us, symptoms and severity are not the same for each individual. In all my years with the KDA, there have only been a few women who contacted me about more severe symptoms. These tended to show up in the late 50s and 60s. As we already know KD can show up anytime in a man's life (i.e., 20s-70s). And, like mentioned above, the symptoms in women are often just attributed to the aging process since onset is normally later in life.

And, that doesn't mean that there are many more women who are experiencing symptoms. They just haven't contacted the KDA. And, I am sure that many women go undetected and just attribute it to the aging process.

Yes, there is still a lack of knowledge in a portion of the medical community. Education is our job. We have to be advocates.

Jim,
I actually really appreciate that statement. Though I realize I will never experience KD to the same extent that my father and other men with KD are experiencing it, it is still something that will, in varying ways, affect my entire life. I think that's why I finally listened to my mom and joined the forum and will hopefully in the near future be able to attend one of the yearly KD conferences. Since it is a relatively "new" disease there's so much that is unknown and this site is great well of knowledge for my entire family. It's good to know that as new information is discovered there's one place that is up to date with all of it.

I've been learning a lot reading through many of the different forum topics and posts and hopefully I can use everyone else's experiences to help with the trials that face my family as well. Thank you all for your posts!

I realize that this post is years old, but I am somewhat desperate to find other females with severe symptoms. I am 36, and after years of worsening dysphagia and other extreme symptoms, my dad recently acknowledged that he has KD as did his mother. In my 20s I went to the dentist over and over demanding they fix whatever cavity I had because parts of my mouth hurt so bad. My dentist informed me that I needed a massage because my muscles were so stiff. In my 30s I can't drive as my shoulders often spasm in a manner that I'm sure my arms are being ripped off of my body. When the muscles around my chest or throat feel like something is wrapping around me, it's down right frightening. I never even considered KD as a reason for any of this, but after talking with my father, we've realized that many of my symptoms mimic his. My guess is that women exhibit symptoms later in life because of menopause, but what about women that have high testosterone earlier in life? Any how, sorry for the long post, but I'm sure there must be some women out there who've experienced symptoms that are more than mild. Thanks!

Susan, thank you for sharing your story. Have you been tested for KD? The DNA is a simple blood draw.

I am not a doctor, so my information might be incomplete. First, since KD is 'X' chromosome related, and since a woman has two 'X' chromosome, one of them is normally healthy and one defective. It is my understanding this is the reason why the onset is much later and less severe. Yes, less testosterone is also a contributing factor in the severity.

Now, there are rare exceptions where a woman can have two defective 'X' chromosomes. When that occurs, it is my understanding onset is much earlier in life and more severe.

I would recommend seeing a doctor who is knowledgeable in KD. Have the DNA test and see what the results are. This will acknowledge or rule out KD and you can move forward with further testing, if needed. Good luck and keep us advised.

Let me piggy back on Bruce's post. It is quite common for carriers to have 'minor' symptoms. This is believed to be due to the low testosterone levels in women. A couple of years ago, there was a paper which presented a case study of two women that had two copies of the KD mutation and their symptoms were very similar to the typical carrier who had only one copy of the mutation. I have not seen anything that indicates that symptoms in women get worse after menopause.

Susan, if you father had KD then you are a carrier. Daughters of men with KD must get an X chromosome from their father - and men have only 1 to give, so there should be no doubt.

Since women having severe symptoms is very rare, you might want to see a physician and make sure that there is not something else going on - simply a precaution. It may be KD but it may not be - it would be worth checking out.

In response to Suddenly Susan, before I was diagnosed as a carrier (via DNA testing) I was having pain that mimicked mumps or teeth problems and I had my mouth opened and ready to go with a root canal when the dentist said, "I don't think you need a root canal!" I even had a brain MRI! 60 mg of Cymbalta daily has helped that and diminished some muscle pain in general but I still suffer from a lot of cramping, spasms, stiff muscles, etc. - but your symptoms sound far worse. I bristle at the many accounts I have read downplaying carrier symptoms because they are real and much more than mild! Suggest you join the Kennedy's Disease Raising Awareness (KDRA) group on Facebook and check out the multiple entries from women carriers - you are not alone!

A possibly relevant passage from a book review I read this morning:

"You may also think that you're just one person, but are you? Mr. Zimmer describes a girl created by fused embryos. He tells the story of a woman who got her white blood cells from the dead brother with whom she had shared a womb. Another woman had an abortion only to find that DNA related to her boyfriend had — presumably through the fetus — populated an entire lobe of her liver. And in low doses, DNA exchanges are normal. In 21% of fraternal triplet pregnancies, each kid gets some of the others' DNA. Roughly 42% of children end up with cells from their mothers. Most moms get cells from their fetuses. In a study of women who had died while they were pregnant with sons or died within a month of giving birth, each had brain and lung tissue made from her son's DNA. An analysis of women who had died in their 70s found that 63% had Y chromosomes in some of their brain cells."

from "Biology's Strange New World" by William Saletan published in the Wall Street Journal Sat. June 30.

This is from a review of She has her mother's laugh by Carl Zimmer.

If uterine transfer of DNA from fetus to mother is so common, we should expect that many "carrier" mothers who have given birth to a boy (or even just been pregnant with one) will share more of their son's DNA than just what he has inherited from her according to simple Mendel charts. That is to say, some of the DNA transferred father-to-son is in turn transferred son-to-mother. How often this leads to full-blown expression of the disease in heterozygous women is of course beyond my ken to answer, but this could be the mechanism by which heterozygous women, previously thought of only as carriers, could become afflicted with the disease.

I am curious as to wether there are any women whose experience of Kennedy's symptoms is severe but could never have been pregnant with a boy?

Andrew, thanks for bringing this up. I had never before heard of this transfer of cells from fetus to mother and it is fascinating. But I'd be really surprised if this turned out to be relevant to KD. Consider women with the KD gene are typically considered carriers with minimal expression of symptoms, probably due to low levels of androgens. Also, the gene is on the X chromosome so if a woman is giving birth to an affected son then that gene came from herself and not the father.