I know this is a controversial topic as I have been reading. Have any women on here been diagnosed with actual KD or just told they are carriers. If your symptoms are not mild but moderate to severe wouldnt you assume the woman has KD and not just carrier with symptoms?

Good morning, yes, woman have KD. However, since a female has two X chromosomes, they normally have one good X and one mutated X. Because of the good chromosome, the woman's symptoms are less severe and normally start much later in life.

There is a rare condition where both the mother and father had KD and the female child was given to mutated X chromosomes. When this happens, the woman would experience many of the same symptoms with the severity that a man does. I am not aware of any woman with this abnormality today, but we have been told it is possible.

Should you have additional questions, please don't hesitate to ask.

Thanks so much, Bruce! I felt fine until around 35 when I had a very difficult pregnancy which seemed to kick it into gear. I had a C section also so maybe that trauma to the body set it off. I dont know why I am experiencing symptoms so intense and so much younger, 39 now. I also have a Liver disease so maybe that weakened my immune system? That is very interesting about both parents. My father started late 50's with symptoms and now 60 can barely walk. Now I wonder about my mother.

Your health issues might not be related to Kennedy's Disease. Does your neurologist have any knowledge of KD? Have you been tested? The DNA blood test will show if one or both chromosomes are defective. I would recommend you discuss this with your doctor to determine if all your symptoms are KD related.

The odds of having two parents with KD is astronomical, but it can happen.

Actually, women with two copies of the KD allele (are homozygous) have been found - they have what appears to be the typical (milder) symptoms of other female carriers - see http://www.neurology.org/content/59/5/770.abstract.

I think that it is believed that the cause of more severe symptoms in men is due to their higher levels of androgens, much higher than normally found in women.

Suzonka, I would second the suggestion to see a neurologist and hopefully can determine the cause of your symptoms.

I had genetic testing during my last pregnancy and my Dr. told me I tested positive for carrying gene. Is this the only DNA test or is there more than one? My primary Dr. thinks I am right but waiting for my appt. with Neurologist.

Years ago my Dr. sent me to Neurologist to test for possible M.S. and Neurologist said No M.S. this was before I had genetic test done.

If you had the Kennedy's Disease DNA test showing the CAG Repeat count, than that is the correct test. Did he give you the results ... actual count?

I am still waiting on new appt. with Neurologist. So, are u saying there is a separate DNA test for SMA types and Kennedys? If you are a carrier can you pass down different types inherited? I have a very large extended family so do I let everyone know now to have them tested if they choose? I am waiting for a copy of old labs to be faxed to check numbers but they did tell me I tested positive SMN1.

Also, I have a 2 1/2 year old son with speech delay and speech problems. Do you think that could possibly have anything to do with disease if he has juvenile SMA or similiar?

Thanks, Ed! I also just read an article that autoimmune disorders can make KD become active. I have 2 seperate Autimmune diseases also.

Hi Suzonka,

Could you please post the reference for the link between autoimmune diseases and KD. Thanks.

Still looking through my web history from past few days to find it. It did say there is possible link between viruses and autoimmune disorders kicking in making neuromuscular disease carriers active. Said it is usually heredity but sometimes both can be factor. Here is one that says under causes.
http://www.betterhealth.vic.go...Neuromuscular_system

Hi folks! I have been very ill and not involved with KD like I want to be, but hope I get stronger soon (gettin' there!). My uncle who had KD died within this year. His symptoms were worse than my dad's who died in 2002. I want to talk to my cousins who might be able to help me with understanding KD and how it nails one brother and shows up milder in another. I am also looking at one of my sisters who is starting to sound like me and starting to have swallowing issues. I have acalasia, diagnosed last year. That sister is a speech pathologist. Your posts are helping me to understand more on KD. Someday I want to go to the convention scheduled for that year. Anyone know when next might be? Warm and sunny Hawaii perhaps?

Hi Suzonka,

There are some neuromuscular diseases that are are due to an autoimmune disease (as the site you linked indicates) but KD is not one of them. There is a number if neuromuscular diseases and they are not all the same and just because some are autoimmune does not mean they all are. There is no evidence that I am aware of that links KD with an autoimmune disorder or that the disease progression is affected by an autoimmune disorder.