Kennedy's Disease Association

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Kennedy's Disease Chat Transcript  07-17-2010

Topic: Natural History of Kennedy's Disease

Host: Bruce Gaughran


Bruce: Testing the chat room for today's chat
Bruce: Test
Bruce: The “Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.”
Bruce: Morning Stan
Stan: Morning. Looks like it's working ok.
Bruce: Were you having problems?
Stan: Not here. Carla noted a problem with the wives chat
Bruce: Okay, I had not heard there was a problem. Did she report it to Terry Waite?
Stan: I have no idea. I don't know what the issue was either. It might have been her.
Bruce: Have you been writing recently?
Stan: Trying, but to no avail. I have started 3 articles and haven't finished any of them yet. Too busy with everything else.
Bruce: I can understand that. Priorities change rapidly. When I wrote my novel, for some reason I was motivated to just write and write ... every free moment of the day. It was a totally different time in my life, but it was also great.
Bruce: I was hoping we would have a good turnout today.
Stan: I hope so. I noticed the change in your blog site. Not too bad.
Bruce: Yes, I tried to freshen it up a bit. I am still experimenting with the right combinations, but ...
Stan: Yes, I'm not sure if I liked the Tan background with Black text better than the Gray with Black. Both are pretty easy to read, unlike some web page combinations.
Bruce: That is my concern. I want it easy to read and yet not just be black text and white background. I hope you would let me know if it didn't work.
Bruce: Well, it is awfully lonely around here ... just you and I. I was hoping the subject would grab a little interest.
Stan: Works for me. At least it isn't Red with Yellow lol
Bruce: Did you read the Natural History of SBMA study?
Bruce: Morning Gary
Gary_KC: Good morning. This is Gary joining in from Kansas City. It is nice weather with 75 degrees so far and will be hot up to 93 degrees today.
Bruce: Stan and I were feeling lonely this morning
Gary_KC: Hi Bruce.
Stan: Some of it. I disagree with a lot of it based onmy experiences.
Bruce: Morning Lou
Stan: Hi Gary, Lou
Bruce: Gary and Lou, did you read the study ""The Natural History of SBMA?""
loutudor: Good morning, all!
loutudor: Sorry no
Gary_KC: Bruce, I am sorry I haven't read it.
Bruce: In case you ever have an interest, Natural History of Kennedy's Disease (
Bruce: I also summarized that report and also the NIH report in my blog ... Living with Kennedy's Disease Blog (
Stan: Good! We can all take the time now to read it. There will be a short quiz afterward. LOL
loutudor: Been busy with a couple of funerals here...will read it definitely
Bruce: This study is different than most, because of the number of patients. So often the patient base is substantially smaller. I would recommend reading the article if you want to learn more about the onset and progression of Kennedy’s Disease.
Bruce: What I found most intersting was: The rate of progression was not dependent upon the number of CAG-repeats. This was very interesting to me. One you began to see symptoms, the progression appears to be fairly well defined.
Bruce: Morning Mike
MikeG: morning everyone
loutudor: Hey Mike
Stan: Hi Mike
MikeG: sorry I'm late
Bruce: And, The greater the size of the CAG-repeat expansion (CAG count), the earlier the onset.
Bruce: It is a small and select group today
Bruce: I am a 53 and I always wondered why my symptoms started so much earlier than several other people. This explained it for me.
Bruce: Another interesting comment was, ""the progression of the disease is not influenced by the CAG count. Once a patient reached one milestone, the length of time to the next milestone was similar to the other patients regardless of the count.""
Bruce: This also explained some things that I have seen in myself and others.
Bruce: Stan, you commented earlier you did not agree with some of the findings. Can you explain what they were?
Stan: I'm 58 now, just had a birthday. My muscle symptoms started in my late 30's. I had other symptoms in my teens though.
Bruce: Stan, what is your CAG count?
loutudor: Are you saying there may be a ""dormant"" period between milestones?
Bruce: The most common cause of death was pneumonia due to aspiration and dysphagia. This point reemphasizes the need for flu and pneumonia shots as well as constant vigilance in regards to any signs of these health concerns. I lost one of my brothers to pneumonia. It was a terrible way to go ... could not totally clear his lungs even with the suction machines.
Bruce: It appears so, Lou. I have always commented about the plateaus ... where everything goes along just fine and then ... bang!!! I have a slide.
Stan: Don't know, don't really care. MDA Doctor agreed that based on my symptoms and my brothers' results, it wasn't necessary other than ""just to know."" My one brother had a CAG count of 43.
Bruce: Morning Poohsdaddy
loutudor: My father died of a heart this common also?
Bruce: Okay, Stan, I can understand.
Gary_KC: Burce, thank you. I have found the article. I am slow to read and type. I will read the article later.
Bruce: Lou, I have not heard that heart problems are symptoms. It could be genetic however.
Stan: I probably should get it tested, but then the insurance company will know, then they charge more for my Kid's insurance assuming they are carriers...
Bruce: Stan, I am not certain there is a need to be tested. If it can cause problems with your work or insurance company, do not worry about it.
poohsdaddy: Good Morning.... Sorry for being later today, but had trouble logging on the computer.
loutudor: I always wondered if the heart muscle is affected with KD or unrelated....
Bruce: My first real symptoms that my doctor noticed was my CK count. The study commented, ""Creatine kinase (CK) averaged 863 in these patients with a range from 31 to 4955. A reader asked a CK question recently and all I could comment at that time was based upon personal history. The normal range for CK is 45 to 245.""
Stan: I can see where it might be, but it shouldn't show the usual heart disease issues.
Bruce: Supposedly, Lou, it is not related ... but who knows.
loutudor: My relative had a CK of 1200...
Bruce: Poohsdaddy, did you have any of those tornadoes that MN had this week?
Bruce: Lou, that is not uncommon. My was in the 800s, but after practicing Qigong for a year, the count went down to around 300 and has never be any higher ... lucky I guess.
poohsdaddy: Yes, Bruce..... one was spotted about 8 miles southwest of here, but luckily it did not touch down.
Bruce: CK reflects the muscle deterioration (death) and the body not being able to clean up the residue.
loutudor: We need to follow your blogs more often, Bruce! So much good info!
MikeG: yes, Lou, I had over 1k myself when I was first tested in 1990
Bruce: The American equivilant to this Natural History report was published a couple of years ago after the clinical trial. Clinical History of Spinal Bulbar Muscular Atrophy (
MikeG: I would suspect it is a lot lower now since there is not as much deterioration going on...
Bruce: It is also interesting. It came to several of the same conclusions ... that is good to know, but also had one that was very interesting.
poohsdaddy: The last ck # I remember was about 1600 .... (at NIH in 2008).
Bruce: ""Our finding that higher, not lower, testosterone levels are associated with better muscle strength and function indicates that it may be necessary to balance the anabolic strengthening effects of androgen receptors against any potential deleterious effects (harmful, often in an unexpected way) of androgen-activated mutant androgen receptor toxicity (another whew)."" I need to determine what this actually means. We know that testosterone is like poison to our defective (mutant) androgen receptor. We also know that the Ohio State trial of testosterone injections in the late 90s did not work. Yet, this study reflects that patients with higher testosterone levels had better muscle strength (and that makes sense) ... except that the higher the testosterone the greater damage to the muscles and motor neurons because the androgen receptor cannot do its day job. Nothing is every easy.
Bruce: This comment blew me away.
Bruce: This goes hand in hand with Maria Penutto's comment about IGF-1 possibly being effective in pre-symptom patients, but might not work so well for those already showing symptoms. Bummer!
Bruce: Morning Paul
Bruce: One of the most interesting conclusions was ... ""In development of a treatment for SBMA, early intervention may also be important to affect disease progression."" We, old codgers, lose out again.
loutudor: Wouldn't the IGF-1 still be a worthwhile trial in existing KD?
Bruce: If the do come up with a treatment, this would mean early detection would be useful for our children and grandchildren.
Stan: I don't have any info on my CK. I had some testing done in 1989; EMG and muscle biopsy, among others, that showed there was an issue causing my muscle weakness, probably also related to my inability to ever gain any muscle mass even though I did weight lifting. Their initial diagnosis was Kugelberg-Weilander.
Bruce: Lou, that is currently being tested at NIH using mouse models with KD. They hope to determine if it helps those of us (old codgers) with a more advanced case.
Bruce: The study reflected that 72% of all patients studied had been initially misdiagnosed. My was ALS.
Bruce: Both studies reflected that the average CAG Repeat Length (count) was 46.6 or 46.7. That was also interesting.
poohsdaddy: Then, I must be one of the lucky ones because I was diagnosed with KD the first time around.
Bruce: I would say so
Bruce: The most common initial symptom was muscle cramps followed by tremors and leg weakness. I thought my first symptom was leg weakness, but then I remember have hand tremors in my late 20s.
poohsdaddy: Did we hear anything back about the ""Chase Bank"" $$ opportunity ?
loutudor: My relative was told he was a out harder at the gym! :(
Stan: I had the trmors and cramps (severe) in my mid twenties.
loutudor: The Chase Bank opportunity was done by many, but not enough to win...
Bruce: To me however, one of the most interesting results was ""94-to-100% of the patients had some sensory problems. This sensory nerve issue (nerve conduction) has been one that has bothered many of us with Kennedy's Disease for some time. The tingling or numbness in the feet, hands or other parts of the body has been frustrating, because it had not been reported as a symptom until recently."" Several of us with KD have explained this issue many times, but no one had ever confirmed the issue.
MikeG: sorry but I've got to go - we've got a problem with our new dishwasher that I need to check out. Later
poohsdaddy: Lou, that sounds familiar. My brothers and sisters thought I was making it all up.... and finally believed it after my cousins and I were all diagnosed with KD.
Bruce: Lou, that was my self-diagnosis initially and I hit the weights hard.
loutudor: Overworking the muscles was the last thing he needed to do...
Bruce: I also found it interesting that only nine patients reported no difficulty with falling (oh, to be so lucky). I believe they had to be the younger ones and the ones with a lower CAG count.
Stan: The person that said that to your relative is a Moron, Lou. I had similar comments made to me too. Bruce, I have had the tingling sensation for some time.
Bruce: For several years ,Stan, I was told the tingling sensations and loss of feeling in my feet were not related.
Stan: I don't have too much problem with falling. Maybe once a month, or so.
Bruce: I also found it interesting that ""The weakness was asymmetric in 62% of the patients with 69% having more weakness in the dominant side."" It fit perfect with my self-diagnosis of strength.
poohsdaddy: Are any of you affected by the weather lately ?? It seems that I am experienceing more ""pain"" when there's a storm on the way or with the higher dew point and humidity.
loutudor: I never realized one side was dominant in KD...
Bruce: Poohsdaddy, I have had that problem for several years now. My muscles ache and joints are sometimes on fire.
Bruce: Yes, Lou, the weakness, at least in 69% of the patients, was greater on the dominent side. It was explained to me that it is because we use those muscles more often.
Stan: I haven't found strength loss on the dominant side to be the case for me Bruce. But then I am ambidexterous
Bruce: Stan, that might explain it.
loutudor: I have to remind myseld that not every pain is related to KD...may be arthritis, heart disease, etc...
Bruce: In fact, Lou, I do say it is arthritis ... but, who knows. It could be a combination.
Bruce: The most affected ADL (activities of daily living) were walking, falling, swallowing, speech, and handwriting. The writing was interesting to me, because I just thought I had poor penmanship.
poohsdaddy: My left side hurts more.... probably since I broke my right leg; and the left side has had to compensate for it.
Stan: You do have poor penmanship, Bruce. I should have been a doctor with my penmanship.:)
loutudor: My father always printed...his cursive wasn't legible...
Bruce: The NIH report further clarified the CAG repeat length findings with, ""This report also concluded that the longer the CAG repeat length (number), the earlier the onset. It also commented that the longer the CAG repeat length, the greater the abnormalities in motor and sensory nerve conduction.""
Gary_KC: My fingers tires soon for writing.
Bruce: Yes, Gary, I have that problem to the extent that if I write a lot, my hand begins to cramp.
poohsdaddy: Bruce, are you saying that you got a copy of the report from NIH ? I thought we would each get information after the clinical study for dutasteride.
loutudor: Bruce, why do scientists say the CAG is not relavant? (by many)
Bruce: The testosterone findings still both me. I need to contact Kurt Fischbeck and get his take on this.
Bruce: Poohsdaddy, no I received the report on the Internet. THe link is
poohsdaddy: Thanks. I'll look it up later.
Bruce: Lou, until these two studies, there had not been a study of any significance (size of patient group) and collection of relevant medical history. (my opinion)
Bruce: To me, these two studies explained more about KD than anything else I have read in the last ten plus years. These were the first two studies that I am aware of that had that many patients. So often, I see studies with 4-8-or 10 patients and conclusions drawn from that group.
Gary_KC: Bruce, The link didn't show the web-site. ""The page you requested was not found""
loutudor: In addition to the funded studies being done for KDA, are there any of significance being funded by MDA to help KD?
Bruce: Gary, it worked for me right now.
Bruce: The MDA does not report funding of rare disorders (that I am aware of). In conversations with Maria, Paul, and other researchers, however, most use our funding as seed money to get the big bucks from the NIH and MDA (as well as others).
Gary_KC: Bruce, the link is too long. So this chat didn't display the all.
Bruce: Gary, go to my blog
Bruce: Sorry,
Bruce: Search for Natural History and Clinical History and it will have links on those pages.
Bruce: One comment on the Japanese study was: Certain other symptoms were left out of this study because patients were not always aware of them (or when they started) even though they might be present. They include muscle cramps, muscle exhaustion, difficulty chewing, fasciculation (muscle twitch), and gyneconmastia (enlarged breasts). These would have also been interesting.
Gary_KC: Bruce, thank you. I will check it later.
poohsdaddy: Can we get Dr. Fishbeck ? Angela Kokkinis ? or Allison LaPean ? to come to the chat again ? Allison is at the Medical College of Wisconsin since leaving NIH; and I get their newsletter periodically which indicates their research.
Bruce: I plan on giving a copy of both studies to my neurologist. He always wants to read more about KD even though he is familiar with it.
loutudor: How common is the facial muscle twitching?
Stan: I have had all of those, Bruce, some before my teens, others I have now.
Bruce: Very
Bruce: So often, the facial twitching is known as a tic. You just need to look at a person with KD and watch their face and arms to see how often the twitching occurs.
Bruce: Stan, if you had these in the teens, according to the studies, your CAG Repeat count must be on the higher end.
Bruce: Poohsdaddy, are you totally recovered from the broken bone?
Gary_KC: Bruce, I have twitching for fingers, too.
Stan: The facial tic is one of the issues that caused me to retire. One manager thought I was making faces with regard to what was being discussed in the meeting. You know where that went.
poohsdaddy: The most recent (from Med Col of WI) was about the use of Co Q 10 for patients with neurological problems; and sounded somewhat encouraging.
Bruce: Gary, yup! Hand tremors are quite common and very often the first symptoms.
poohsdaddy: Bruce, not yet, but hopefully soon. I'll see the ortho guy at the end of the month.
Bruce: Poohsdaddy, I have been taking CoQ10 for several years now. I do not know if it helps, but I was told it certainly cannot hurt. It is also good for the heart.
Gary_KC: pooh, do you have any information for CoQ10?
loutudor: Bruce, do you make house calls?! You are a plethora of information!!
Bruce: Poohsdaddy, I hope everything is fine again. When I broke my tibia and fibula a few years ago, the bones were too crushed to totally correct them. My left foot is 15% to the left of a normal foot.
Bruce: No, Lou, I only take patients in my office here in Georgia.:p
loutudor: HA! :D
poohsdaddy: ;)
loutudor: Any other OTC meds anyone takes that helps?
Bruce: If you have not read these two studies, I would highly recommend that you do. It really helped me more fully understand this health issue.
Bruce: Lou, I was told to take a Vitimin B suppliment as well as D. Both are supposed to help ... who knows.
loutudor: Thanks...
Stan: I take Baily's
Gary_KC: Bruce, I take B-12 and D.
Bruce: This has been fun today. I appreciate your participation and sharing of information.
loutudor: Thanks, Stan :D
poohsdaddy: I also take Vitamins: B-12, B Complex, D, D-3 & E and Potassium Gluconate, Glucosamine/Chondroitin.
Bruce: WOW!
Gary_KC: pooh, you take lots. :-)
loutudor: Does it help, Pooh??
Bruce: Just remember, life could be a whole lot worse for us. I have always said I was fortunate to just have KD. Everything else seems to be working just fine.
Bruce: Knock on wood
Gary_KC: Bruce, I agree with you. :-)
poohsdaddy: I can tell the difference when I skip any of them. Thanks to all of you for being here today !!
loutudor: Yes, I agree...
Bruce: Well, I need to sign off and get my dog out for a walk. Take care and stay upright.
loutudor: Thanks for a great conversation! Bye
Gary_KC: Bye, all.
Stan: Ok, time to but brakes on my truck. Until, next time.
poohsdaddy: Ditto.... Time for me to get going too. Hope to see each of you here again next month.