Sunday, December 4, 2011

Can women have Kennedy’s Disease?

Over the last couple of weeks I received two emails from women asking if they could have Kennedy’s Disease. Both women thought that it only affected men.  One woman had previously been diagnosed with ALS.
 

Not Gender Specific

Androgen Receptor with KD Kennedy’s Disease is not gender specific. Both men and women can have the defective X-chromosome gene. It is rare, however, for women to show symptoms until later in their life. Also, symptoms for a woman are generally less severe.  My mother, for example, began to experience leg weakness and twitching in her early 70s. She also began experiencing swallowing issues.

The symptoms are caused because the mutated gene cannot process testosterone correctly (do its job). And, since men normally have higher levels of testosterone, the symptoms are more severe and begin to show up earlier in life.
 

DNA Test

Women are tested for Kennedy’s Disease the same way as men. Your family doctor can draw the blood and send it to a DNA lab for analysis.  If your doctor is unfamiliar with Kennedy’s Disease, you might want to print this web page that explains the DNA test (http://www.athenadiagnostics.com/content/test-catalog/find-test/service-detail/q/id/61 ). A DNA blood test normally takes about 4-6 weeks. 
 

Genetics

Since the disease is genetic, both men and women can pass the defective X-chromosome gene on to their children. Women are considered carriers. Normally, they have one healthy and one defective X-chromosome. There are very rare cases where a woman has two defective X-chromosomes. A carrier can pass either a healthy or a defective X-chromosome on to her children (son or daughter). A man with the defective gene can only pass the defective chromosome on to his daughters.
The genetic chart below shows how this can happen.
Genetic Chart

Should you have any questions, please don’t hesitate to ask.  If I don’t know the answer, I will try to find someone that can answer it for you.

10 comments:

  1. Please,

    can you direct me to sites on this issue: the symptoms of "Kennedy's disease" in women? Thanks. Rosaura.

    ReplyDelete
  2. Rosaura, the chart comes from the KDA website ( http://www.kennedysdisease.org/index.php/about-kennedys-disease/genetic-counseling ). There is more information here ( http://www.kennedysdisease.org/index.php/about-kennedys-disease/what-is-kennedys-disease ). This study might also be helpful ( http://brain.oxfordjournals.org/content/129/6/1446.full ). I hope this helps. If not, please let me know what you are specifically looking for or drop me an email. Bruce

    ReplyDelete
  3. I have been diagnosed with being a carrier and have muscle problems with my LGS what can I take to improve this to make me more comfortable

    ReplyDelete
    Replies
    1. This is a question you need to discuss with your doctor. It depends on the severity and also the cause of the problem. Cramping is only one possibility for the issue. Depending on your age and severity, there are medications and over-the-counter drugs that can help relieve many of the symptoms if it is from cramping, I wish you well.

      Delete
  4. Can a symptom in women be lethargy?

    ReplyDelete
  5. First, I am not a doctor, so anything I say could be wrong. Weakness, along with an emotional state of being worn out, worn down, or just not wanting to do anything, could be associated with KD. It could also be associated with many other conditions.

    My mother's legs began giving out on her, she had to exert a lot of energy to do most everyday chores, and she found it difficult to stand up from a chair. After a time, she just wanted to sit most of the day. Since she didn't know she was a carrier, she just assumed it was old age catching up with her.

    Discuss the symptoms with a qualified doctor. He should be able to help you diagnose the cause.

    ReplyDelete
  6. Thank you for the information. What if women have two defective x-chromosomes?

    ReplyDelete
  7. It is my understanding these women will have an earlier onset and a greater number of symptoms including severity. Fortunately, this is very rare.

    ReplyDelete
  8. My father had full blown Kennedy's. I am now in my forties and have severe larynx/espohagial issues. I have suffered muscle cramping for over 10 years, this is worsening.

    ReplyDelete
  9. My father had full blown Kennedy's. I am now in my forties and have severe larynx/espohagial issues. I have suffered muscle cramping for over 10 years, this is worsening.

    ReplyDelete

Please feel free to comment. By taking a moment to share your thoughts you add much to these articles. The articles then become more than just something I said or believe. In addition, by adding a comment, you might just be helping the next reader by sharing your opinion, experience, or a helpful tip. You can comment below or by sending me an email. I look forward to hearing from you.