MDA Online News

Article Highlights:

* A research team has identified the specific mechanism by which mutations in the androgen receptor protein gene lead to toxicity and neurodegeneration in spinal-bulbar muscular atrophy (SBMA).
* SBMA toxicity, the researchers reported, is caused at least in part by overactive function of normal androgen receptor protein and its interactions with other disease-modifying "partner proteins."
* The investigation, which received MDA support, opens the possibility of developing SBMA therapies that selectively target problematic androgen receptor protein interactions.

"Long-term implications of these findings include the potential for development of precision-targeted therapies for SBMA. The fact that the FDA has approved medications for other AR-related conditions may help speed development, testing and approval of selective AR protein-based treatments for SBMA.

The findings also suggest that achieving the greatest impact with selective AR-based treatments in SBMA may require early treatment (prior to the onset of puberty) in order to prevent motor neuron damage.

"It's possible that the damage in SBMA takes place over a long period of time, maybe beginning as early as puberty," Taylor said. "So a less toxic, less life-altering therapy that could be given to young men and taken over a lifetime is preferable."

How many males would even know that MD would crop up in later life? Is gene testing going to be the norm in the future? I know we had no idea until 5 years ago. Did anyone here with KD know at a young age? Did you have relatives with the disease so you had an idea you could be affected?

Lois, you ask some good questions. I wrote about the most recent research you mentioned in my blog.

Living with Kennedy's Disease blog

Dr. Taylor will be our guest on the KDA Chat on October 16. He will discuss the recent findings and answer your questions. Join us if you can.

I had an inkling that I had KD when two of my older brothers were diagnosed. Since there was no treatment or cure, I did not get tested until 1997.

And yes, if a treatment like IFG-1 for muscles or ASC-J9 becomes an effective treatment for KD, I can see where DNA testing of young men will become more prevalent. I have a grandson that might have KD and it would be great if he could start treatments at his age to reduce or minimize the impact of KD on him in later life.

Bruce, I'll have to check out your blog.

As I mentioned in other posts, Bobs family is in denial about this after going on 6 years. It is a real shame as there are so many nephews and 3 grand-nephews who could have inherited this. Nobody cares, so at least we have a clear conscious that we tried so everyone could be tested.

Sorry this has affected your own life and family so much. Maybe the new health care laws will allow people to get genetic testing without fear of being denied coverage?

I do hope that if they find a medicine from this research that it will not be too late for those already affected with KD? I would love to see my husband regain strength and muscle that he has lost. My biggest fear is watching the person I love so much deteriorate in front of me. I never say anything but I hurt inside as I see the subtle changes.

Lois, yes, the mental and emotional impact of KD is hardly discussed, but I see it playing an even greater role in those of us living with KD. Spouses and children see their husband or father withering away and feel helpless.

We all need to be aware of this particular impact on relationships.

Bruce, you sure know how to get me teary eyed, Talking about Kiki and Bob!

I suspect not talking about the elephant in the room is easier? I do not want to say, "Hey, I really can see how much muscle you lost." or at the end of a long day, "Your speech is becoming slurred." I think it best to remain positive and say things like, "Wow, you sure got a lot completed today!"

As a KD patient, how do you feel? Would you rather talk about the changes or not?

Lois, whether someone wants to talk about it really depends upon the individual. Sometimes it is good just to dump and other times, since you do not want to sound like your are complaining, you would rather not talk about it.

The Saturday chats are a good place to dump. If Bob has not tried them, or if you are interested, give it a shot. The second Saturday of each month is scheduled exclusively for wives, caregivers, and significant others. The first and third Saturdays are for everyone.

If you get a chance, read yesterday's Living with Kennedy's Disease article. It explains where I have been and where I am at right now.

Bob is an early riser, I'm not. It would be good for him to get on the chats. He is always "busy" and rarely goes online. I'll remind him where he can find help.

Do I want to talk about muscle deterioration? Not really, but it is important to talk about what I can do and what I can (no longer) do. My wife is pretty sensitive to this, and she can sense when my abilities are being tested beyond their limits.
Be aware of how much he struggles with stupid things like replacing light bulbs or picking up trash from the floor. I have a son who can help me and I am unashamed about asking him to help. Talk about exercise and how to improve or keep what muscle power he still has. Talking just about deterioration is depressing.

Allan, not sure how I read into your posting, is your wife sensitive like she knows and helps or sensitive like she can't take the changes?

I hope that everyone with a mobility/disability issue, is able to ask for help without being ashamed. What is happening is not something that you can control.

Sorry I was not clear. My wife understands my limitations in great detail, which is what I meant by saying she was "sensitive" to the limits of my abilities. She often stops me from attempting to exceed what I can safely accomplish. My son is less patient with my disability, but he is my strength when I need strong things done, even though I need to push him hard to do them.