Kennedy's Disease Association

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Kennedy's Disease Chat Transcript

11-11-00

Topic: Special guest Q& A Session with Dr. Kenneth Fischbeck M.D

"KENNEDY'S DISEASE (SBMA) CHAT"

Kenneth H. Fischbeck, M.D.Dr. Kenneth Fischbeck M.D, one of the nation's leading Neurogeneticists and Chief of the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke (NINDS) will be available to answer general  questions about SBMA (Kennedy's Disease) and give a brief update on research. Dr. Fischbeck received A.B. and A.M. degrees from Harvard University and an M.D. degree from Johns Hopkins. His laboratory is studying the mechanisms of hereditary neurological and neuromuscular disorders, particularly the polyglutamine expansion neurodegenerative diseases.

More information about Dr. Fischbeck is available at http://intra.ninds.nih.gov/Lab.asp?Org_ID=88.

 

 

Chat Participants

  • dr-fischbeck
  • peter
  • kdfl
  • terryw
  • tom-bush
  • jean
  • poppy
  • don48312
  • bill-c
  • toddrallen
  • gryphon
  • northpark
  • boblar
  • michael
  • jean-s
  • yves
  • bob-harkins
  • melski
  • mgoynes
  • herbie
  • arofer
  • gil
  • gary

BEGIN CHAT


terryw -- Hi there! Bright and early in California.

tom-bush -- Hi Terry -- just checking to make certain you're online and wish you good luck!

terryw -- Hi Tom, We may have more than 25 people today; is there a way to increase the number of those who may type in questions?

terryw -- Tom, Where are the host tools? I don't see them.

jean -- {welcome jean}

yves -- {welcome yves}

bob-harkins -- {welcome bob-harkins}

poppy -- {welcome poppy}

don48312 -- {welcome don48312}

terryw -- Hello Northpark and Poppy, Where are you from?

terryw -- Hi Poppy, where are you from?

poppy -- hello susanne I’m valerio I came from Italy for me is the first time at chat terry , you write me everyday and I thank you

terryw -- Poppy: How did you know I'm behind the keyboard?

poppy -- now is famous all over the world

terryw -- Great. Thanks for letting me know who you are! I like to know if those who join are on our mailing list or not. Thanks.

yves -- {welcome yves}

yves -- hello everybody

jean -- Good afternoon to every one.Salut les français. Guten Tag nach Deutschland.

bob-harkins -- {welcome bob-harkins}

bill-c -- {welcome bill-c}

peter -- Good afternoon to everyone too from Germany

terryw -- Peter: IS that Claus-Peter?

peter -- Yes it's me, Claus-Peter

bill-c -- hello everyone

bob-harkins -- Hi guys

toddrallen -- {welcome toddrallen}

gryphon -- {welcome gryphon}

northpark -- {welcome northpark}

terryw -- {goodbye terryw}

terryw -- {welcome terryw}

northpark -- you must be using the revolving door terry

boblar -- {welcome boblar}

michael -- {welcome michael}

jean-s -- {welcome jean-s}

toddrallen -- Does anybody else experience mental/emotional interaction with SBMA symptoms?

toddrallen -- For example does anxiety increase your tremors which increases your anxiety?

don48312 -- Todd, I accepted my disability after a period of time. problems are physical for me.

yves -- toddallen- Yes it's the case

bob-harkins -- Todd, I find that when I am under stress my tremors increase. However, my anxiety level does not seem to increase.

toddrallen -- Thanks, yves, I've never seen this listed as a symptom, but it can be profound for me.

toddrallen -- bob, for me if I'm slightly nervous, say public speaking, my voice will quake, then I get more nervous, more quaking, eventually cramps, etc..

yves -- So, I thing we need to be very relax...."ZEN

bob-harkins -- todd, have not experienced that yet.

toddrallen -- Yes I try to be stress free, but it isn't always possible

bob-harkins -- Todd I know the stress problem well. Unfortunately it goes with earning a living.

jean -- Yves dans mon E-Mail,j'ai oublié de te demander si tu avais des

résultats positif avec le RILUTEK

jean-s -- hi, everybody

boblar -- DR Fischbeck - Obviously, every KD patient has different symptoms and disease progresses in different ways. I have been recently diagnosis as having KD and I have only bulbar area symptoms. I have no weakness in my limbs. As the disease progresses, should I expect it to

eventually the weakness in my limbs?

terryw -- Dr. Fishbeck has not yet joined us.

gryphon -- {welcome gryphon}

melski -- {welcome melski}

gryphon -- {welcome gryphon}

mgoynes -- {welcome mgoynes}

mgoynes -- Greeting from Atlanta, GA

melski -- Hi bob!!!!

herbie -- {welcome herbie}

jean-s -- hi mike

mgoynes -- Hi Jean

boblar -- Greetings from Pompano Bch, Florida

Don48312 -- boblar, there are 2 of us with KD in sun city center near Tampa here today

boblar -- don48312-We are going back to Boston today-that's my home.

don48312 -- gotcha boblar. live here now

boblar -- don48312-No I live in Boston - just vacationing.

don48312 -- to bad for u boblar, lol. love it here in FL

poppy -- susannew, where are you from

terryw -- Poppy: We're in California.

northpark -- Dallas here

bob -- Hi everyone

arofer -- {welcome arofer}

jean -- Hi mgoyes where are you from

mgoynes -- Atlanta, Georgia

arofer -- HI: Allan here from Comdex in Las Vegas

terryw -- Allan, are you a tech? Terry usually goes to the Comdex and CES shows.

arofer -- I am a software consultant.

mgoynes -- Allan, I'm a software consultant too! -Mike

toddrallen -- I'm a programmer too..

arofer -- Maybe we should start a virtual sw consulting company. Terry: thanks for setting this up!

toddrallen -- We could call it MuscleSoft

mgoynes -- That's an idea.

mgoynes -- It's good to be in software if you have SMBA. I have 2 brothers who have physically challenging jobs and they have KD also. Not easy.

don48312 -- {welcome don48312}

toddrallen -- Another question, my grandfather (with SBMA) started showing signs of senility a little earlier than typical

toddrallen -- I'm think I'm already experiencing mild loss of short term memory. Is there any evidence of any mental involvement with SBMA?

bob -- That makes two of us at least with short term memory loss - add me to the list Bob C UK

northpark -- like to stay and chat, but work calls...a price you pay for having to work weekends :(

don48312 -- kicked off again

terryw -- We are still awaiting Dr. Fischbeck. Hopefully he will arrive soon.

northpark -- {goodbye northpark}

don48312 -- {welcome don48312}

don48312 -- been kicked off 3 times already today

gryphon -- {welcome gryphon}

terryw -- When Dr. Fischbeck arrives, We will do a short announcement in regards to him and a few questions we had asked him about he has prepared answers for. Please allow this to transpire, then ask one question at a time. Allowing him to respond to one question at a time. Thanks.

bill-c -- since were waiting I have a question has anyone notice a strength increase with using hgh or testosterone?

don48312 -- I use testosterone and it increased my strength

toddrallen -- Did the testosterone aggravate cramps, tremors or any other problems?

don48312 -- no problems noticed with testosterone

melski -- don: How long have you been using Testosterone and do you give yourself the shot?

don48312 -- melski, wife gives me shot in butt every week. been using for several years now

jean-s -- bill - not a strength increase but may be a stabilization ?

bill-c -- I’m 47 year old male with 46 repeats it seemed to help but I’m off it now I want to compare

bill-c -- I used testosterone patches

jean-s -- bill - intramuscular for me

poppy -- don48312 you think testosterone is good for kd?

jean-s -- bill - do you feel increasing strength ?

bill-c -- a bit maybe it keeps the muscles stronger I’m going to try it again

don48312 -- doc in MI put me on it several years ago after a SBMA test at Ohio State Univ.

jean-s -- {welcome jean-s}

don48312 -- u in MI mgoy?

don48312 -- I waz mgoy

terryw -- Just talked to Dr. Fischbeck via telephone. He's on his way now!!!

mgoynes -- Was anyone involved in the Mendez study at OSU?

melski -- mgo: I was one of the first to start the 16 month research project. no positive results. Sorry!

patrick -- {welcome patrick}

dr-fischbeck -- {welcome dr-fischbeck}

jean -- Another question: Is there anyone who has experience with RILUTEK

bob -- Has anyone tried Rilutek?

terryw -- We'd like to get started.

terryw -- Welcome everyone joining us this morning. We want to extend a tremendous thank you to Dr. Kenneth Fischbeck for taking the time to be here today to bridge the gap for those living with SBMA who have previously not had the opportunity to ask questions about this disease. As previously mentioned: Kenneth H. Fischbeck, M.D., one of the nation's leading Neurogeneticists and Chief of the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke (NINDS) Dr. Fischbeck received A.B. and A.M. degrees from Harvard University and an M.D. degree from Johns Hopkins. His laboratory is studying the mechanisms of hereditary neurological and neuromuscular disorders, particularly the polyglutamine expansion neurodegenerative diseases. More information about Dr. Fischbeck is available at http://intra.ninds.nih.gov/Lab.asp?Org_ID=88.

terryw -- PLEASE ALLOW DR. FISCHBECK TO ANSWER ONE QUESTION AT A TIME. WE THANK YOU FOR YOUR UNDERSTANDING.

dr-fischbeck -- I'm very sorry! I overslept & went into my usual Sat morning mode!

dr-fischbeck -- I'm ready for questions now

boblar -- Dr Fischbeck - Obviously, every KD patient has different symptoms and disease progresses in different ways. I have been recently diagnosis as having KD and I have only bulbar area symptoms. I have no weakness in my limbs. As the disease progresses, should I expect it to eventually the weakness in my limbs?

dr-fischbeck -- SBMA usually causes weakness & cramps in the arms & legs as well as the "bulbar" symptoms.

toddrallen -- Boblar, I experience very mild bulbar symptoms as early as 13. It took another 15 years before I started to show significant muscle weakness.

gil -- {welcome gil}

don48312 -- Doc: currently the thing that scares me the most is the air cutoff in my throat when I get a cold. this seems to be a problem with other KD sufferers.

patrick -- {goodbye patrick}

jean-s -- 1) What is the opinion of Pr Fischbeck about testosterone treatment ?

dr-fischbeck -- To an earlier question: Testosterone treatment has to be considered unproved. There are positive short-term results in some patients, but we don't yet know the long-term consequences to patients

terryw -- Please hold off for a few moments and allow Dr. Fischbeck to respond. Thanks.

patrick -- {welcome patrick}

terryw -- -- 1. Dr. Fischbeck, can you give us an update as to how research is progressing towards a possible cure or treatment for SBMA?.

dr-fischbeck -- Sorry, I guess my last response didn't make it. SBMA research is progressing steadily. Much has been learned about the mechanism of the set of diseases to which SBMA belongs, and this is starting to point the way toward treatment.

terryw -- We have found that many of the SBMA individuals that have contacted the Kennedy's Disease Association were originally mis-diagnosed with ALS or other forms of MD. We believe that the number of individuals that have SBMA is much larger that previously documented. (We now have heard of over 500 individuals worldwide.) We also believe there are still many out there that have possibly been mis-diagnosed. What can the Kennedy's Disease Association do to get the word out to neurologists to inform the medical community to prevent mis-diagnosis and find those who may have been mis-diagnosed?

dr-fischbeck -- I agree that SBMA is under-recognized. It's one place where patients can help to educate their doctors. Confirmatory testing should be readily available.

terryw -- 3. We have discovered by a poll that about 75% of the SBMA individuals have a problem with their airway passage closing (Laryngeal-spasm) on them suddenly during the day or night and this seems to be much more frequent when they have a cold or respiratory virus. This is a very frightening problem for us. Have you heard of this symptom among SBMA patients and if so why does this happen and what if anything can be done to try to prevent this? What can we tell other medical professionals who are trying to aid us?

dr-fischbeck -- Airway problems can be difficult to manage. It might help to consult a pulmonary specialist or respiratory therapist. It's important to know the Heimlich maneuver and get flu shots.

gryphon -- {welcome gryphon}

jean-s -- thank you doc

terryw -- 4. Are there any clinical trials currently going on for SBMA and are there future plans for any clinical trials for treatment of SBMA?.

dr-fischbeck -- I do not know of clinical trials that are going on right now or in preparation. There are trials in related diseases, like Huntington's 7 ALS that could lead to trials in SBMA.

boblar -- Thank you, Dr. Fischbeck

bob-harkins -- Doc Fischbeck: It is Good to talk with you again. What is your view on KD patients using Statins to reduce Cholesterol levels. My internist is concerned about my high Cholesterol levels. We have tried several treatment using non Statins (Niacin ) but they do not appear to help the problem. He is now strongly urging me to use Statin based drugs. What should I do?

gryphon -- {welcome gryphon}

terryw -- 5. Many individuals with SBMA would like to know if they should be exercising or not and what type of exercise should be done. Also we are unsure if we exercise that we may be doing more damage than good to the remaining muscle tissue.

dr-fischbeck -- I see no problem with cholesterol lowering drugs (or nearly any other drug, for that matter). I think exercise in moderation is good.


terryw -- We'll open up to general questions now. Please feel free to ask

michael -- Dr. Fischbeck I saw you in 93' when you were at Philadelphia University, What progress Or discoveries have you made since then?

dr-fischbeck -- I think we've made a lot of progress since '93. No cure yet, though.

toddrallen -- Dr. Fishbeck, do concentrations of nuclear mutant protein aggregations correlate to neural damage in humans? In females, do more symptomatic ones show higher levels? Do CBP levels differ in female carriers versus afflicted males?

jean-s -- Dr Fischbeck , Is there some relationships between US and French physicians or researchers about KD ?

dr-fischbeck -- We're in contact with French researchers doing related work. I spent some time in France several years ago on sabbatical. Dr. Fischbeck questions, but to try to wait for him to respond to other's questions before bombarding him with too many at one time!

terryw -- Question from Maria R.: There have been women who are suffering from SBMA who have come forward asking questions.. It seems to be more common than first thought and certainly one of those women diagnosed as a sufferer only has one faulty X chromosome - I was told that women don't suffer from SBMA as their good X chromosome compensates for the faulty one whereas in men they only have the one X chromosome, hence they suffer. The only way a woman could be a sufferer was if she inherited faulty X chromosomes from both her mother and father (how unlikely would that be!) but this doesn't appear to be the case.

dr-fischbeck -- No, women can have symptoms of SBMA, although they are generally not as severe. The normal process of X chromosome inactivation is random, and some women have more inactivation of the normal X just by chance, and this leads to symptoms.

jean -- Dr Fischbeck: Is there any experience with the drug RILUTEK (50 mg

riluzol)or AMANTAN?

dr-fischbeck -- Rilutek has been shown to have some effect in ALS (but not much). It hasn't yet been shown to have an effect in SBMA.

jean -- Dr Fischbeck: Thank you for Rilutek answer. If I get results I will transmit them. For the moment I make a long term test.

kdfl -- {goodbye kdfl}

gryphon -- Dr. Fischbeck, could you please explain the role of polyglutamine expansion in neural degeneration, and current research focus in that area?

toddrallen -- Dr. Fischbeck, what charities do you recommend we give to if we wish to see maximal dollars reaching researchers of SBMA and other related diseases?

dr-fischbeck -- The MDA, the ALS Assoc., FSMA, the Telethon in Italy and the Kennedy Disease Association support research in SBMA. Of course, your tax dollars support SBMA research through the NIH.

boblar -- Dr. Fischbeck - Any suggestions as to diet, vitamins and nutrition?

dr-fischbeck -- Not much to suggest re: diet, except that adequate nutrition & vitamins and a healthy, well balanced diet are good. Just common sense.

bill-c -- be as finely tuned as possible right doctor?

arofer -- Dr., is there any current research in the use of gene therapy for SBMA?

dr-fischbeck -- Gene therapy is being investigated for related diseases, but in this case the challenge is to inactivate a toxic gene rather than replace it.

peter -- Dr. Fischbeck, could you please explain, where I get information about the Heimlich maneuver

dr-fischbeck -- The Heimlich maneuver should be known by most physicians & nurses, or you could learn about it through a CPR course.

poppy -- dr. Fischbeck . the triplletts are important in this disease or not?

bob-harkins -- Dr Fischbeck: Would an increase in NIH funding focused towards SMBA help in accelerating research activities?

jean -- Is there any relation with SBMA and the fact, that I get frequently cold feet, without recognizable reason? Advice?

gryphon -- I never had cold feet until the past few years. I've heard from many KD patients about cold feet. My neurologist (Dr. Barry Festoff) thinks it may be related to reduced circulation because of lower extremity muscle inactivity.

dr-fischbeck -- Interesting question about cold feet. I hadn't heard of this as a problem in other patients, but I see how it could be, because the peripheral nerves are involved.

don48312 -- My feet are often cold also, along with high CPK levels and high protein spill from kidneys

gil -- I get cold feet and find that wearing socks, even when I feel warm enough, helps

don48312 -- has the high CPK level been studied

dr-fischbeck -- High CPK is very common. I've seen that in just about every patient.

bob -- Doctor: A number of sufferers are having short term memory problems is this a known symptom in SBMA? Bob C (UK)

dr-fischbeck -- Good point about the Kennedy's Disease assoc., Terry. I wasn't sure where things stood with this.

toddrallen -- A paper from Univ. Milano in Hum Mol Genetics, jan. 2000, said ".motorneuronal cell death not correlated with aggregate formation ..." It also said, ".. testosterone treatment partially counteracted both cell death and the formation of dystrophic neurites.." These statement seem in contradiction to the CBP sequestration work. Is there validity to the Italian work?

dr-fischbeck -- The toxicity of the mutant gene product in SBMA need not involve aggregate formation. CBP could be inactivated without aggregates. Angelo Polletti, whose group did the study you mention, is coming to visit here next month.

michael -- Dr. Fischbeck do you see any time frame on a cure for this disease.

dr-fischbeck -- Hard to predict a time frame for a cure. I'd say on the order of 5-10

years. Once we do find effective treatment then I'd be happy to retire (not until then!).

terryw -- A big "cheers" to that Dr. Fischbeck... not retiring!!!

don48312 -- hope u retire soon Doc!

don48312 -- then cure will b soon

terryw -- PLEASE ALLOW DR. FISCHBECK TO ANSWER ONE QUESTION AT A TIME. WE THANK YOU FOR YOUR UNDERSTANDING.

don48312 -- maybe the upcoming KD survey will surface some of these common symptoms

terryw -- I agree, the upcoming questionnaire will definitely show

correlation’s and help us to understand SBMA even further.

gryphon -- Dr. Fischbeck, has current research in polyglutamine expansion in neural degeneration indicated the potential for development of a treatment?

toddrallen -- Is there any commercial involvement in research of the polyglutamine

diseases or is it purely governmental and university research at this point?

dr-fischbeck -- Yes, research in polyglutamine expansion is finally taking on in industry. A contract with Aurora, a company in the San Diego area, to do high throughput pharmaceutical screening for agents to block

polyglutamine toxicity is one example.

terryw -- Aurora Biosciences traded ABSC! Good stock to follow!

dr-fischbeck -- I'm not going to get into stock recommendations, but E-Merck, the European version of Merck, is also supporting a screen for drugs to block toxic polyglutamine.

terryw -- We're not recommending stocks either! Just fun to watch ABSC's movements

jean -- Is there any relation with SBMA and the fact, that I have permanently a flowing nose, so I need to wipe here very often (30 times a day) or use every day nose drops like someone how has take cold? Advice?

terryw -- Someone said that KD can come in 1 birth of male for 50,000. It should be more of 300 KD in France, 750 in US and 25,000 in the world. Do you agree with this statement?

terryw -- What would be the estimated world population with SBMA?

dr-fischbeck -- A runny nose probably has some other explanation, such as seasonal allergy. SBMA prevalence has been estimated at 1/40,000 in the German population. This fits with my experience of about 8-10 families with 60 or so patients in the Philadelphia metropolitan area.

gryphon -- I've also developed a runny nose, although I attributed it to allergies. Maybe that is a undocumented, but common, KD symptom.

don48312 -- Runny nose question will be put on KD survey

yves -- Gryphon- You right about runny nose

terryw -- Thanks Don.

peter -- Dr. Fischbeck, do you have information on pain in legs, arms, shoulders and head as a normal symptom for SBMA patients?

jean -- Is there any relation with SBMA and the fact, That I be permanently congested?

toddrallen -- jean, I'm also very congested, hay fever, allergies, etc. I don't think SBMA causes it, but the bulbar effects interact to cause more choking, food aspiration, etc.

dr-fischbeck -- Congestion & pain are not common symptoms, but can occur. There is a genome-wide search for other such disease genes that's being done at Johns Hopkins in Baltimore.

dr-fischbeck -- I agree with the point that congestion can be more of a problem in SBMA, even if it has another cause. That's why I encourage influenza vaccination (which is available each year around this time).

terryw -- I have heard of 3 SBMA individual's who have passed away due to respiratory complications due to cold or flu. Please do get your flu shots and take colds/flu’s seriously. (These are through all the correspondences we've received.)

gryphon -- I agree with terry and Dr. F. on flu shots. There have been comments in the news about early supply problems with the vaccine, but KD patients fall into the "higher risk" group and we need to get ours ASAP, IMHO.

toddrallen -- Has a search of the human genome database been conducted for other trinucleotide repeats to maybe find other diseases?

bob -- Dr Fischbeck - is short term memory loss a symptom of SBMA?

dr-fischbeck -- Memory loss is not a symptoms I've heard patients with SBMA complain of (any more than the rest of us!)

boblar -- Dr Fischbeck - There are many similar symptoms with ALS do you the cure for ALS will help for find a cure for KD?

gryphon -- The ALS community has a 'club' called the "Over 5 years", or something similar. The members are those diagnosed with ALS who have survived longer than expected. Is that an area of research, such as giving a sample of them blood tests for the KD trait?

dr-fischbeck -- ALS is really a different disease, although the symptoms overlap and it's clear that patients can be misdiagnosed with one instead of the other.

mgoynes -- How about exercise? I notice that after a good walk, I am so tired that I almost fall down but I feel that I should still try. Should I do less more often? I always feel better the next day after a heavier exercise.

jean -- Is there any relation with the fact, that I have acne (main on arms and in the back)? it begin when I was +/- 18 and became more since this time, comparable to the evolution of the disease.

arofer -- After Dr. Merry's "clumping" discovery, what's the follow-on to this line of research? Is it promising?

dr-fischbeck -- I guess Dr. Merry will be doing a later chat. She has results with an SBMA animal model that I've heard will be published soon.

toddrallen -- Are you referring to the transfected mice? Is she trying to ameliorate the neuronal damage in vivo?

dr-fischbeck -- You can probably get Dr. Merry to talk about the mice. They are transgenic mice, carrying the SBMA gene. I don't think she has bred enough yet to try out treatments, but that would be a plan for the future.


terryw -- We look forward to having Dr. Merry join us in a chat also.

don48312 -- Doc; Wife & I met u at Chicago SMA convention 2 years ago. Appreciate your efforts on our (KD) behalf

terryw -- The Kennedy's Disease Association has collected 270 names of individuals who show symptomology. We also have names of SBMA carriers. We are in the process of putting together a detailed questionnaire form to send out to all SBMA individuals to collect information as to their symptomology and progression. Would you please email us with questions that you think would be pertinent and helpful to all neurologists and researchers. Thank you.

dr-fischbeck -- OK, I could suggest questions. A registry could be helpful. It's good to be careful about sharing your medical information over the Internet, though.

gryphon -- Is androgen receptor insensitivity significant to loss of muscular strength in late term KD, or is it primarily a 'side-effect' in early gender maturation processes (e.g. gynecomastia)?

poppy -- dr Fischbeck ,please reply to demand about voice thanks

peter -- Dr. Fischbeck, do you have any information about special balance problems in dark or with closed eyes?

dr-fischbeck -- Yes, we think androgen insensitivity may be contributing to the weakness; this is something we're investigating. Balance problems in the dark probably relate to the sensory neuropathy most patients have (but don't necessarily notice otherwise).

toddrallen -- How early does nerve damage actually start occurring with SBMA?

terryw -- About 10 minutes until chat closing. Please hold all further questions and allow Dr. Fischbeck to answer those outstanding.

dr-fischbeck -- We don't know how early nerve damage begins in SBMA. We did pick up one patient at 18 months with increased CPK. I'm willing to stay on longer to answer questions, since I started a bit late.

tom-bush -- I will attempt the extension.

terryw -- Tom Bush at the MDA will try to extend our live chat as Dr. Fischbeck has stated he can stay longer... This is an experimental thing for Tom and the Chat, so we may get cut off... We apologize if this happens, but it may be a limitation to the chat system. If it works, Great! We'll continue for awhile longer until Dr. Fischbeck notes he must depart.

jean -- Is the reason know why the disease brakes out on very different ages; advance so differently.

arofer -- {goodbye arofer}

mgoynes -- {goodbye mgoynes}

toddrallen -- arofer, just noticed your request, will do.

poppy -- dr Fischbeck, the voice of my father is not clear (after exercise)and same days is a problems. other days is correct. is there a reason?

dr-fischbeck -- The bulbar symptoms (such as speech difficulty) can vary from day to day.

dr-fischbeck -- Any more questions? I'm just getting warmed up (the coffee's starting to kick in!)

michael -- {goodbye michael}

jean-s -- {welcome jean-s}

terryw -- We'd like to thank Dr. Fischbeck again for his joining us today and answering our many questions. We look forward to supporting future SBMA research. Anyone who would like more information on the Kennedy's Disease Association is asked to email at This email address is being protected from spambots. You need JavaScript enabled to view it..

toddrallen -- Dr. Fischbeck, final question.. Having full-text research papers on line is hugely more convenient than going to local Univ. library. Is there any way to encourage more free online publishing?

dr-fischbeck -- Free online publishing is something I'd like to see more of. Former NIH Director Varmus pushed it. Somehow the publishers have to get their cut though, I guess.

poppy -- goodbye and thanks for all

jean-s -- sorry, I have some problems with my computer...

peter -- Dr. Fischbeck, is there any correlation between SMBA and infertility

toddrallen -- peter, yes I believe there is a documented correlation to infertility. Its not absolute though.

jean-s -- thank you doc Fischbeck

bill-c -- doctor is the # of cag repeats and severity of symptoms or when they begin related?

dr-fischbeck -- Yes, there is a rough correlation between repeat length & disease severity and age of onset.

gryphon -- I have a second cousin, male, 20 years older than I, who has the same number of repeats that I have. According to him, my symptoms duplicate his in onset and severity.

jean -- Is there any relation with SBMA and the fact of excess production by some gland.

dr-fischbeck -- I'm not sure what you mean by excess production. SBMA is caused by an abnormality of the androgen receptor, which is the protein that binds to the sex hormone testosterone. This can lead to excess testosterone production as a kind of compensatory reaction.

jean-s -- bye everybody

boblar -- Dr. Fischbeck - Thank you - very informative!

tom-bush -- Chat has been extended to 9:15 AM PST and 12:15 AM EST.

don48312 -- ill stay

toddrallen -- Are there any known correlation’s explaining disease severity in carrier females? i.e. androgen levels, etc.

dr-fischbeck -- I haven't seen a correlation in females. My guess is that several factors would be involved, including repeat length and the pattern of X chromosome inactivation as well as hormone levels.

bob-harkins -- Dr. Fischbeck Would like your advice on exercise for those with SBMA.

peter -- I do have exercises twice a week for half an hour and feel good with it

dr-fischbeck -- Exercise in moderation is good, I think, although this has not to my knowledge been studied systematically.

terryw -- How do we go about getting "Studies" started... such as for exercise, experimental treatments, pain, etc.. We have a large enough population now to obtain volunteers.

terryw -- Dr. Fischbeck, how can we update medical journals to include symptoms that may not be listed as of yet? (I believe the questionnaire will draw correlation’s that would need to be proven to do so, but this is something we'd like to work on...)

gryphon -- Dr. Fischbeck, I've had numerous requests about a KD information document, from patients, doctors, and genetic counselor’s. I am writing it in .pdf format so it can be distributed on the Web and keep formatting and graphics (from the KU genetics center) intact. I expect

Terry and Susanne's questionnaire will provide some input, as perhaps serve as an annex. I want to distribute it through the KDA site. Can I ask you to review it for technical accuracy, and to make any suggestions?

dr-fischbeck -- Yes, I can try to review documentation before it gets posted. Results from a survey might be publishable in the medical literature. terryw -- Publishing results would be wonderful. I'd like to defer to you in the future for your direction on this. Thanks.

gryphon -- Thanks. I'll get a draft to you as soon as I can.

don48312 -- Doc; would you like to review the survey before its sent out to KD'ers?

dr-fischbeck -- Yes, I can take a look at the survey, too.

jean -- Is the chat session closed?

tom-bush -- The chat session is still open until 12:15 AM EST (9:15 AM PST)

dr-fischbeck -- I'm still here. Are there any questions I may have missed? It was going pretty fast & furious at the beginning.

bill-c -- doctor do you think that by making the immune system as strong as possible {through exercise, organic diet, and detoxification}a genetic disorder like ours can be slowed or reversed?

dr-fischbeck -- The role of the immune system is unclear. I saw one patient treated with high dose immunosuppressive treatment (steroids) who got worse.

don48312 -- Doc: is anybody looking into this specifically relating to KD'ers?

don48312 -- the choking that is

boblar -- Dr. Fischbeck - Review with us the tests to make a positive diagnosis of KD.

dr-fischbeck -- Genetic testing is available commercially through Athena in Worcester, MA, and other labs. It can be done on one tube of blood.

toddrallen -- I've noticed that adrenaline rushes seem to give good strength & momentary cramp, spasm elimination.

bob-harkins -- Bye all

bob-harkins -- {goodbye bob-harkins}

jean -- is there any relation with SBMA and the fact that I have acne (main on arms and the back)? It begins when I was +/- 18 and became more and more since this time, comparable to the evolution of the disease?

dr-fischbeck -- Oh, yes, the acne question. I don't see a direct connection, although acne can be affected by hormonal changes, and the androgen receptor mutation in SBMA does cause changes in androgen hormone effects.

toddrallen -- Perhaps epinephrine might work to interrupt a choking spasm?

don48312 -- todd, do u use epinephrine?

toddrallen -- No, I've never tried it, but thought it might offer help for choking, I'd want medical confirmation of that first...

terryw -- Terry has an epinephrine shot in case its necessary. He carries it with him at all times. He's had some very horrible food allergy reactions that have needed emergency hospital attention.

dr-fischbeck -- I'm not sure about epinephrine for choking. I think that would be more effective for an allergic reaction like asthma.

gryphon -- I've developed a personal technique for those throat spasms. I consciously relax, and focus on taking little 'sips' of air, which keeps me out of oxygen debt or CO2 build up. The spasm always resides in a few minutes (although it -seems- to take longer...

don48312 -- me 2 gry

terryw -- Terry has not used epinephrine for throat closures. He remains calm, and tries to breathe in very slowly.

don48312 -- me 2 terry w

toddrallen -- Terry, thanks for the info..

dr-fischbeck -- Trying to stay calm & breath easily sounds like good advice.

Increased anxiety can aggravate the problem in a kind of vicious cycle.

don48312 -- a doc gave me nitro-glycerin tabs for the choking but I never used them

terryw -- Nitro for choking? Terry had these for heart issues years ago...

dr-fischbeck -- I don't know that nitro would help for choking (although it's clearly beneficial for angina).

Don48312 – I have no heart problems. Thanks doc

peter -- Dr. Fischbeck, do you have any information whether there are Germany scientists too that we could contact for information for patients, that can not speak English

dr-fischbeck -- There are German researchers working on SBMA who could be a source of information. Dr. Annette Abel, who has worked on SBMA with me here, is moving to Frankfurt at the end of this month to work with Dr. Georg Auberger, who is quite accomplished in this field.

peter -- Dr. Fischbeck, in which way can I come into contact with Dr. Abel or Dr. Auberger? My address is This email address is being protected from spambots. You need JavaScript enabled to view it.

terryw -- Do you have Dr. Abel and Dr Auberger's email addresses? I'd like to add to the distribution list so they know of the KDA's efforts. You may send under separate cover to protect their privacy if you'd like.

dr-fischbeck -- Dr. Abel's current address is This email address is being protected from spambots. You need JavaScript enabled to view it.. I don't have Auberger's at hand, but for this and other information you can contact me later at This email address is being protected from spambots. You need JavaScript enabled to view it..

terryw -- Do you know much about the Japanese researchers and their research at the University of Nagoya? They stated at the FSMA conference that they have over 200 SBMA individuals in one town. What do you know about this?

terryw -- What is the reasoning for the high incidence in Nagoya? Is it hereditary due to a few families in one area? Is it environmental and is a mutation? What do they think is the cause? Are there females showing

symptomology?

dr-fischbeck -- Nagoya has a particularly high incidence of SBMA. It's at least as common as ALS there. We've collaborated with Dr. Gen Sobue's group there for many years. Fumiaki Tanaka from Nagoya is currently working in our lab on SBMA.

toddrallen -- Dr. Fischbeck, how does the CBP sequestration model mesh with the known tissue specific nature of SBMA induced cell death?

dr-fischbeck -- The CBP sequestration model could account for cell & tissue specificity if motor neurons are particularly sensitive to the effects of CBP depletion. We don't know this, though. The high incidence in Nagoya (and also Finland, by the way) probably is due to "founder effect."

terryw -- Would you describe "Founder affect"? I'm assuming it has to do with the mutation beginning there and then being passed along...

dr-fischbeck -- Yes, presumably SBMA was present in one of the original settlers of the Nagoya region and also in Finland.

jean-s -- {goodbye jean-s}

peter -- Thanks, Dr. Fischbeck

boblar -- Thanks again,Dr Fischbeck and thank you Terry & Susanne for setting this up!

terryw -- Are there any more questions?

poppy -- bye from Italy and thanks for all sorry for my English p.s doctor go on speedy!

gryphon -- Dr. Fischbeck, is there any support for the idea that trauma may trigger or accelerate KD symptoms?

terryw -- We have heard of a lot of people who began to notice their SBMA symptoms after a trauma or surgery... Could it be the high stress level that brings it on earlier than it would have normally?

dr-fischbeck -- No evidence one way or the other on trauma. High CPK is seen in ALS as well, but not as often. I think in SBMA it may indicate some direct involvement of muscle as well as motor neurons, although this hasn't been investigated.

terryw -- Those who are retired or are on disability from work have stated they noticed their symptoms to lighten upon leaving work... again due to less stress?

peter -- I do also have more problems in stress situations

toddrallen -- I find stress, esp. anxiety and too a lessor degree fear and anger can trigger symptoms which seem to sometimes create a positive feedback to the original mental state.

gryphon -- I have noticed stress causes my throat to tighten, my legs to weaken, and fasciculation’s and spasms to increase. These did not happen earlier, like five years ago.

toddrallen -- Dr. Fischbeck, SBMA in the literature is classified as "adult onset". I'm assuming this because that is when people finally realize they definitely have a health issue.

toddrallen -- But is there knowledge of how the disease progresses at a molecular / cellular level and at what age are effects first seen?

terryw -- Some of those with SBMA have noticed symptoms before even reaching 20 years old, but not knowing what it was, thinking it was normal for everyone and no one talked about it or correlating it with a disease until they are diagnosed with SBMA years later.

dr-fischbeck -- The average age of onset (when symptoms are first reported) is in the mid 30s in our experience, although the range is considerable.

jean -- Is there any relation with SBMA and stiff fingers.

dr-fischbeck -- Stiff fingers & cramps in the legs are not uncommon.

gryphon -- Todd, at the St. Louis conference, we discovered that most of the KD patients shared very early "subclinical" neuromuscular symptoms...

don48312 -- this has been very very informative Doc

peter -- bye bye from Germany and thanks to all

gary -- {welcome gary}

don48312 -- bye from sunny FL. Gotta go count voter ballots now!!!!!!!!

tom-bush -- Thanks again Dr. Fischbeck

poppy -- {goodbye poppy}

tom-bush -- Dr. Fischbeck, thanks for a great job (and altering your Sat morning to be with us). On behalf of MDA and MDAchat -- thank you!!

END CHAT