Kennedy's Disease Association

"Surfing the internet I found the KDA and for me it was like an island for a castaway."

• sussanew
• dr.-katz
• patrick
• mikeg
• allanr
• ton
• mobiusloop2
• speedy
• john-c
• bruce
• chuck
• john-c
• butch
• billeric

chuck -- {welcome chuck}

susannew -- {welcome susannew}

susannew -- Good morning Chuck!

susannew -- How have you been?

chuck -- Good morning Susanne

chuck -- Susanne, we have been doing pretty good here - how about you all??

chuck -- Yes, it is Anna Lea

susannew -- We are good. Lots going on and constantly on the run, but good.

susannew -- Is Chuck healed completely from his fall?

butch -- {welcome butch}

butch -- {welcome butch}

susannew -- Good morning Butch!

butch -- Good morning Susanne and Chuck. How have you been? What is todays

topic of discussion?

susannew -- Dr. Jonathan Katz from Stanford University is planned to join

us today for the chat.

susannew -- A KDA member who sees him told us he was willing to be a guest

on a chat.

butch -- This is wonderful that Dr. Katz is coming onboard to share

knowledge with us. Maybe we can give some info also.

mikeg -- {welcome mikeg}

susannew -- Good morning Mike! How are you and Paula?

mikeg -- Greetings from sunny Atlanta

butch -- Susanne: Annette's mother is doing better. Annette has her own

health problems she is dealing with.

susannew -- I'm very sorry to hear that... I'll have to call her.

susannew -- Glad to hear her mother is doing better...

mikeg -- We are fine, just saw my neuroligist yesterday to get that form

filled out and he didn't have a clue! Time for a change I guess...

susannew -- No Mike... time for you to educate him!

allanr -- {welcome allanr}

butch -- Please don't think that Annette is not totally involved with KDA.

She is still looking for ways to improve our situations.

susannew -- Oh no, I know Annette is involved! Very involved! We've all

been very busy at the KDA in our personal live and are trying to keep

things moving forward at the KDA.

susannew -- The KDA should have a brochure complete sometime in the next

2-3 months... its been written and is being designed right now. Once we

have that, anyone and everyone can have one to give to doctors on behalf

of the KDA.

billeric -- {welcome billeric}

allanr -- hello from gloomy northern california

susannew -- Good morning Allan and Bill!

dr.-katz -- {welcome dr.-katz}

dr.-katz -- I made it!

butch -- Allanr: Are you new to this chat? Don't remember seeing you here

before. What is your situation?

allanr -- I am a kd patient of Dr. Katz's. I have been here before/name is

Allan Rofer

susannew -- THanks Allan for volunteering that you are the KD patient of

Dr. Katz!

john-c. -- {welcome john-c.}

billeric -- Good morning folks

mikeg -- Susanne, does Terry have spells where his fingers tingle? I had

several days this week when the tips of my fingers were tingling.

susannew -- Terry's fingers don't tingle generally, but he says they just

go "dead" and don't work.

susannew -- We are still working on the questionnaires and want to remind

everyone who hasn't sent theirs in to please send it! We have about 20

questionnaires being put in a spread sheet by volunteers! Thank you to

those 3 who are taking the time to do so.

susannew -- Good morning Dr. Katz. Thank you for joining us.

susannew -- Dr. Katz is an assistant professor at Stanford University and

has a KD patient who sees him. He is available now to answer any questions

we might have...and Dr. Katz, if you have any questions of us, please feel

free to ask... everyone in the chat lives with KD.

dr.-katz -- Maybe I can take questions first?

allanr -- Dr. Katz, what do you think of stem cell therapy for KD? I have

heard of some local chiropractors using it.

dr.-katz -- Wait a minute here Allan! Stem cells are about the most

technically challenging scientific fronteir there is. Chiropractors would

be about the last people to try that.

susannew -- Dr. Katz: How long have you been seeing patients with KD?

dr.-katz -- Now that I have clarified that, KD may someday be a good

disease to try that sort of therapy because it is a known genetic defect

and "probably" due to a single receptor. The idea with stem cells is to

deliver normal genes or proteins to take over. However, I add that we are

not there yet. I have been seeing patients with KD for about a decade.

mobiusloop2 -- {welcome mobiusloop2}

ton -- {welcome ton}

susannew -- Good morning mobiusloop2? Who is this?

susannew -- Good morning Ton from the Netherlands!

billeric -- Dr. Katz, what is your opinion on all the herbal remedies

available for any and all dieases?

dr.-katz -- Herbal therapies---every time I talk in front of a support

group I get that question. Every time someone out there says they have

benefitted greatly. Medically speaking, we usually have to test drugs

forever to prove they work before putting them on the market. Herbals

don't go through the testing so it's really hard to believe someone from

such a non-scientific background could do anything that great. Still,

there is placebo effect and maybe some herbals make some people feel

better. But as far as treating the cause of a disease---don't bet on it.

patrick -- {welcome patrick}

john-c. -- Anna Lea: I haven't fprgot you & Chuck, only VERY busy. Maybe

next week

susannew -- Good morning Patrick!

butch -- Dr. Katz-- It is so hard to go to doctors who do not have any

idea how to treat KD or what to to do to help us other than tp prescribe

pain or anticlenching meds.

ton -- Hello and good afternoon from Holland

patrick -- Good morning everyone. I had a little trouble getting on this

AM, but everything is fine now (and so am I! :-)

john-c. -- ....and you look older this week, Patrick!

susannew -- What in your opinion would be the best way for the KDA to help

raise awareness of KD with doctors (neurologists) specifically about KD?

dr.-katz -- Pain meds and question on awareness: they are both kind of the

same. KD is a rare condition so there is almost no way the average doctor

is going to figure it out and see it enough to be comfortable.

Diagnostically, there are enough tests available that "shotgun" testing

should help doctors diagnose many cases, as long as they consider it. NOw

as far as pain is concerned...I am not sure pain is part of the disease,

but it is part of aging. Be careful with symptoms like tingling and pain

because they probably signal something else. Don't forget, having KD does

not make you immune to other issues.

butch -- Since coming on line with the KDA chat we have had about sixty

participants at different times. Of the sixty participants we are on

thirty different meds. We need to keep abreast of what is working and what

is not.

dr.-katz -- I'd be interested in what meds people are taking for KD?

susannew -- Butch: I would ask everyone to go to the KDA website:

www.kennedysdisease.org and list what kind of meds they are on in the

forum - this is a great place for us all to share information. Terry and I

will go there and do so immediately following this chat!

speedy -- {welcome speedy}

mobiusloop2 -- It is tough gettingup this early. I don't sleep very good

and about 6;00 am is when I finally get some good sleep

susannew -- Good morning Speedy and John C (you snuck in on me!)

speedy -- morning Susanne

mobiusloop2 -- Washinton state

mobiusloop2 -- I wondwe if Dr. Katz could comment on a case where disc

degeneration is/could be causing more problems that KD?

dr.-katz -- Mobiusloop2---disc disease is one of the aging problems, not a

KD problem. Disc disease is a symptom of the aging back. If nerve roots

are involved it can cause numbness and pain in an extremity as well as

back pain. For the most part, it is best treated conservatively.

mikeg -- Dr., FSMA has stated that vitamin B-12 and Folic Acid is

beneficial for SMA. Do you have any opinion on vitamin supplements being

beneficial to KD?

susannew -- Terry's pain, he believes is due to overuse of the muscles and

tendons on his legs, because he has more pain when he walks or stands for

a long time. We stretch his legs backwards (heel to butt) and he takes hot

soaks, and the pain goes away for a period of time. He takes Ultram 50 mg

1x a day to help with the pain. The doctors told him he could take it more

than once a day, but he chooses not to because it can cause liver damage

and it keeps him awake at night.

susannew -- Terry says the ULtram works wonderful for him for the pain. He

has tried others, but they didn't work. (Vicodin, muscle relaxers, Flexeril...)

john-c. -- Susanne, that's a great ??. In my case, I've volunteered to be

the "show and tell" subject for the grand rounds at U of MD Medical

Center's Neurology Dept. They call it "Case Conference" and it's scheduled

for late Feb. My Dr. (Neil Porter-the guy who ID'd it before the DNA test)

thinks it's the best & most effective way to spread the message to other

Drs.

susannew -- Terry has gone to UCLA to be a "case study exhibit" for

neurology students for KD. When he goes down there to visit Dr. Graves -

everyone comes running to see a KD patient!

allanr -- susannew: i did that at stanford.

john-c. -- Too bad UCLA & U of MD are that far apart: we could do a duet

for them.

susannew -- I think its great that those with KD are volunteering their

time to go in to be case studies. It helps those up and coming doctors

know more and be better educated about KD. If anyone has the time to

volunteer to do this, please call your local university and volunteer!

speedy -- dr. katz What is your oppion on the use of celebrex for

authorits in patients of Kennedys.

dr.-katz -- Celebrex works about as well as over the counter pain meds

like Motrin. The advantage of it is that it's easier on the stomach, so if

you have to take it for a real long time it prevents ulcers. Also, if you

have had ulcers you don't need the motrins either. However, be careful in

that celebrex may have a bad effect in that there is some concern that

large amounts can increase the risk of heart disease more than other

antiinflammatories and block the effect of aspirin for prevention.

susannew -- Terry tried Celebrex and he said it didn't seem to work as

well as Ultram.

speedy -- thanks

mobiusloop2 -- My left leg is getting very weak but ny right leg is still

strong. I take no meds for KD

allanr -- my family doc gave me nitroglycerine for emergency trachea

"cramping" - i have not used it yet

susannew -- Terry had nitroglycerin for heart problems!!!

john-c. -- As for any meds, both NIH & Local don't have any advice: my

pain is not too bad. Only med regularly (past 30 yrs) is an OTC- Quinine

sulfate 325 mg.

susannew -- He took it once, he said it felt like his head was going to

explode.

susannew -- Is there any research at Stanford in regards to KD going on?

dr.-katz -- Research---we are trying to recruit someone who is interested

in trinucleotide repeat diseases. He lectured here this week and we'll

find out soon. However, no direct research right now.

billeric -- Dr Katyz, I take neurontin for leg pain but I see the drug in

print quite often now. Have you had any sucess prescribing it?

billeric -- In doctors columns in papers I see the drug mentioned for

things like back pain etc.

susannew -- Many doctors do not associate pain with KD. HOwever, many of

those who have contacted the KDA do have leg or hip pain. We are

conducting a detailed questionnaire right now that has gone out to 350

individuals with KD. Pain is one of the many issues addressed in the

questionnaire and I hope will help us lead to a better conclusion about

this.

dr.-katz -- Neurontin---generally used for aches and pains and sometimes

effective. It can cause drowsiness and it probably works less than half

the time. However, you should know that it started out as a seizure

medicine before becoming the most prescribed chronic pain medicine there

is.

susannew -- Would those in the room check in if they have pain (and if so,

where) and if none so state...

john-c. -- hips, especially after a long day

allanr -- no pain

mikeg -- No pain here... only if I fall.

billeric -- Hip pain and leg pain and also ankle pain

mobiusloop2 -- I have very little pain attributed to KD but some pain from

my back problem. Is there anyone in seattle that Dr. Katz might refere

that is knowlegable about KD?

dr.-katz -- Seattle---One of the doctors at Virginia Mason , last name

starts with R...blanking on name...is a neuromuscular specialist. YOu

might want to see him. Don't tell him I blanked on his name....

mobiusloop2 -- OK, thanks

john-c. -- hey mikeg: that sounds like one of my lines

chuck -- I have pretty severe pain in my legs, especially at night. I am

not taking any pain medication as of yet. I had tried neurotin but with no

results. Dr. suggested we stop.

mikeg -- Actually it's my pride that gets hurt more than my body.

dr.-katz -- Pain and KD---you are right. THe issue is that pain can occur

when postures changes or when there is weakness in some muscles so that

others have to do the brunt of the work. KD can make one susceptible to

the latter. The pains you are all describing are mostly orthopedic issues

(aches in joints, cramps from overuse). Conservative treatments like

stretching, resting the affected limb more, heat probably should be the

first line.

speedy -- in right {hand} midle finger is locked in about a 90 degree

angle and has pain in it and some of the other fingers has pain.

butch -- If you want a list this is what I got from our chats. Ultram for

pain. Testosterone, neutron, mysoline, creatine monohydrate, sbaclofen for

cramps, carbamZepinn (tegatol), metabolite for energy, vicodin for pain,

rilutex (riluzol), amantan, andostendione, mestrin for stregnth,

mestinonss, glucosamine CQ-10, zoloft a anitpressant, baclofen tegretol,

gaviscon for throat constrictions, vioxx for pain, celebrex, darvocet,

percaset, klonpin, serzone for anxiety, amitriptoysline a anti depressant,

tizanidine hel for muscular twitching, trazadone, mirapex for twitching,

oxandroline for stregnth, quinsssssssssinsssel (legotrim), serpalgin

curare which is a snake venom, I hope this list helps some or all of us.

susannew -- Butch: Its good to have the list. Thanks. What we also need to

do is get the dosage and how many times a day and to hear from the

individuals taking these medications as to how they think they are working

for the problem that they were prescribed for... Again, the forum is a

great place for this on the Web site!

dr.-katz -- Butch the med list sounds about like I'd predict! Does anyone

have a question about any single one...

john-c. -- Butch: this sounds like a drugstore

patrick -- My neurologist has prescribed the following meds fo my KD:

tizanidine HCL 4 mg 3Xday for tremor (fasciculations and intention

tremor); diazepam as needed for bad cramps (I've had three back operations

to fix ruptured disks in my lumbar region); and most recently,

pyridostigmine bromide,60 mg, 1/2 tablet before meals (to help prevent

throat spasms & aspirations. These meds are in use for other diseases, and

Dr. Festoff monitors me closely since I was diagnosed in 1995.

butch -- Hope the list helps. I am taking naproxen--I also take 2 tylenol

in the AM. I don't take the naproxen until about noon. This gets me thru

the day most times.

susannew -- Dr. Katz, We have heard of a surgery that helps with laryngeal

spasms... have you heard of this kind of surgery? If so, what would be

your comments?

dr.-katz -- Surgery---had one patient have it but not for KD and it did

not work. I have not seen that problem in KD...

chuck -- Dr. Katz I have had two throat dilations and it has certainly

helped with my eating. I can eat so much better and I don't choke like I was.

mobiusloop2 -- My brother and I have laryngeal spasems

john-c. -- I'm pushing for the Quinine Sulfate. it's a muscle relaxer,

safe (non Rx) works w/o any side effects, almost eliminates cramps, has no

alcohol contras, cheap, available, and worth a try for you all. Helps with

all tremors and some fasciculations.

susannew -- Laryngeal spasms seem to be a common KD symptom. The airway

closes and they "choke" that seem to be triggered for no apparent

reason... not eating at the time.

chuck -- Sorry, DILATATIONS I meant.

patrick -- The pyridostigmine bromide my doctor prescribed is for throat

spasms. He studied a recent swallowing study I'd received, and he believes

that I have a degree of hyperrelexia in my throat (somewhere between my

soft palate and my stomach, I don't remember the specific muscle group).

dr.-katz -- I guess I have always thought that choking problem was the

esophogus more that the larynx. What does it feel like?

mobiusloop2 -- You can breath out but not back in

kdfl -- {welcome kdfl}

susannew -- We call it "dry drowning". Terry says it feels like your air

passage closes completely and you cannot breath out or in, until it begins

to relax. Same as if you swallowed a piece of food the wrong way and it

tried to go down your air passage.

dr.-katz -- Esophogeal spasms are these sensations like a tight ball is

caught in the throat and you can't breath. It is a sharp sensation that

lasts about a minute before things relax. They are thought to be triggered

from swallowing air, but I am not that sure.

allanr -- right. the trachea cramps like a muscle

john-c. -- Suggestion for "choking".....(when I was at NIH & did the

swallow analysis) they showed me that I had contrived a "help" by holding

my breath for 1/2 second after each swallow: that helped reduce the

incidence rate.

dr.-katz -- Allan and I discussed this problem once before.

mikeg -- billeric: Good question - I second that question.

patrick -- I learned to take conciously relax, take little sips of air in

and out, until the spasm subsides. If I try to breath agains it, it feels

like a valve shuts off.

susannew -- When choking, Terry tries to relax (hard to do when this

happens cause your turning red in the face) turn his head to the side and

then breaths in through the nose. Easier to do if you've just taken a

breath before the choking happens.

john-c. -- Dry swallow is a perfect way to say it. And it does leave after

60-90 seconds; and after scaring the He.. out of most people in the room.

Partick-I can't get any air in at those times.

butch -- Choking can be lessened if we cut our food into smaller portions.

We will always be the last ones away from the table but at least we don't

go thru the choking problem.

patrick -- I'll let everyone know if the pyridostigmine bromide works to

relieve my throat spasm. It has been used for myasthenia gravis for years.

Unfortunately, it may have side effects for me. I'll see.

dr.-katz -- To all--the swallowing problem you are describing is in fact

the esophogus and comes from eating to fast. Things like smaller portions

help. It can also happen out of the blue as noted below. I don't know of

any treatments and while scary, it is not dangerous. You'll be pleased to

know that it happens in other conditions (and I get it myself from time to time).

john-c. -- OK, so let's all agree that we will take in a full breath of

air before we choke. I'm OK with being the last to leave the table, just

as long as I can always leave.

allanr -- thx, patrick, i will be interested

john-c. -- Dr.Katz: Most of us have this happen when we had finished

eating/drinking 20-30 minutes earlier. That's the real problem.

dr.-katz -- John C--explain what you mean??

john-c. -- Finish eating.get in the car.drive for 15-30 minutes in

pleasant conversation (or quietly) and ALL OF A SUDDEN, without warning,

"DRY CHOKE" . The airway SLAMS shut. 110% shut. Nothing you can do but

wait it out.

mikeg -- I had it happen to me one night in the middle of sleep. What

would have caused that? I sure wasn't eating...

susannew -- Terry has never had a spasm during eating. Its always happened

out of the blue. Driving, in the middle of the night, and it also seems to

be highly agitated when he is sick and has a sore, swollen throat.

kdfl -- I am thankful that at 67 I do not have the swallowing or breathing problems.

dr.-katz -- Well it seems these spasms are occurring all sorts of

different ways. I need to think it through more. I suppose you can swallow

a bolus of air when you are relaxing or something else might trigger it.

The bottom line is a weak palate or maybe even a weak esophogus (the

esophogus' upper third is skeletal muscle and is probably part of KD) may

make people particularly susceptible.

mobiusloop2 -- usually random with me but often triggered by pepper or dry

scratcy foods

mobiusloop2 -- Or while leaning back in a soft chair

dr.-katz -- mobiusloop2---are you eating cactus???

susannew -- Dr. Katz: : ) Cactus!!!

susannew -- The Bulbar part of the brain being affected by the disease:

Spinal Bulbar Muscular Atrophy (KD) is why we've always thought the

choking/spasm occurs... Dr. Katz comment confirms this?

butch -- One of my problems is eating soup. I tend to bend toward the bowl

because of my losing some of the soup from the bowl to my mouth. Then of

course your head is bent and your throat is partially closed to allow food

to pass. Of course this is only my observation.

speedy -- chuck are the dialations painful

patrick -- The respiratory therapist who wrote up the patient notes from

my swallowing study emphasized smaller bites, drink mor to keep the bolus

soft (bolus+the wad of food you're trying to swallow), CONCENTRATE on

eating correctly (don't talk, read, or otherwise be distracted while

eating), and breathe enough so that you do not have to take a breath in

the middle of swallowing.

mobiusloop2 -- also, sit up straight when eating or drinking

patrick -- Part of the spasms that occur not while eating could be caused

by saliva or post nasal drainage. I know if a breath e& swallow salive, I

can choke. And if I have a cold or hayfever, my sinus drainage can cause

choking.

billeric -- Dr. Katz, what is your recommened way to locate the most

knowledgeable KD doctors in the areas we live in?

dr.-katz -- Knowledgable docs--(now bare with me if I miss soem of these

questions).. You can bet on the neuromuscular clinician at a local

university to know the ropes. Otherwise send me an e-mail and I can give

you a name in your area (maybe).

susannew -- The KDA would like to start putting a list together of doctors

who are knowledgeable about KD. If you believe your current

doctor/neurologist/university is knowledgeable... please let us know and

we can begin to post to the Web site by geography.

susannew -- I think we'll need the doctor's permission to be listed. We'll

need their name, address, city, phone.

susannew -- How can we as KD patients going in for surgery make the entire

surgical team (anathesiologist, surgeon, etc.) aware that we have KD and

how it might affect some things they would do for individuals without KD?

WE have heard of individuals having complications with anathesia, air

tubes when they were taken out, etc... How can we really get their

attention that complications may arise since we have KD?

dr.-katz -- Anesthesiologists are about the best physicians of all in

paying attention to these sorts of risks. That's what they are trained to

do. The best thing is make sure you give them a good history and ask about

risks and benefits, like anything else.

patrick -- Dr. Katz, do you know Dr. Barry Festoff. He is a professor at

the University of Kansas Medical School, has a research lab at the Kansas

City VAMC, and sees patients at the VAMC. I am a veteran and hurt my back

while of active duty in the Army, and went to the KC VAMC for back

problems, and was diagnosed with KD by the VA.

dr.-katz -- Believe it or not I interviewed for a job in KC about a year

ago. The new department chairman there is Richard Barohn. Barohn is

probably the number one clinical specialist for KD in the world. You're

lucky to have him there

speedy -- {welcome speedy}

billeric -- Dr. Katz, Can we have your e-mail address?

dr.-katz -- This e-mail address is being protected from spambots. You need JavaScript enabled to view it The S is for scott...

john-c. -- Washington State Cacti Seatleus?

susannew -- Dr. Katz, would you mind if you were one of the first to be

listed on the KDA's doctor list on our Web site?

billeric -- Thanks

dr.-katz -- I would be honored by that listing!

dr.-katz -- Does everyone know about the genetics of KD???

susannew -- We have a genetic chart and description on the web site, but I

don't know if everyone has visited that section of the site or not.

susannew -- Are you aware that some female carriers exhibit symptoms?

dr.-katz -- Ahhh--manifesting carriers. Always an interesting topic.

patrick -- Dr. Katz, are you familiar with the VA rules about disability?

I am classified as 50% disabled, primarily due to my back trauma. However,

the KD is beginning to affect me worse.

dr.-katz -- Patrick--tell the VA that the KD is exacerbating the disablity

you already have from the back. They should up your rating since you are

connected by the back pain and the KD can make that more of an issue.

patrick -- Thanks, Dr. K. That's sort of what my care providers have been

writing up. I know I heed another rating exam, and I don't want to get

helixated.

susannew -- Is there anyone who'd like Dr. Katz to explain the genetics of KD?

speedy -- yes

susannew -- I might have jumped the gun Dr. Katz... were you referring to

the inheritance of KD? or did you have another idea in mind to discuss genetics...

dr.-katz -- All of the above, Susan, just it's something everyone should

be well versed in. Has everyone heard of a trinucleotide repeat?

chuck -- Yes, we went through genetic counseling at NIH which we

understand is available to any KD patient. We met with Dr. Fishbeck and

would recommend this to anyone that could take advantage of this.

john-c. -- Agreed 100% Chuck: they are great.

billeric -- I think I am knowledgeable on genetics

butch -- Most of us know about the genetics of KD. We must live with the

fact that we leave a legacy for our daughters to pass on to our grandsons

the 50% probability of getting KD.

allanr -- given the state of clinical research, what probability would you

give to finding a "cure" for KD, e.g., relief of weakening symptoms?

dr.-katz -- I would rate the probablity of a cure at 50% over the next 20

years. I am not sure that means reversing nerve degeneration but it may

mean preventing it from happening. I am amazed by the rate of discovery

these days, but there is a ways to go.

mobiusloop2 -- Is there a relationship between KD and back problems? How

many have disc problems?

dr.-katz -- The relationship between KD and the back is like this. KD

occurs in men over age 50. Back problems occur in men over 50 too! KD

makes the trunk weak and that makes the posture go and the posture going

causes overuse and muscle pain. It also can make the spine work harder and

that causes arthritis. Thus, I wouldn't be surprised to find back pain in

more KD than the average guy of 60 or so. I also would expect to be way

higher than the average 40 year old.

patrick -- I apologize for my typographical errors this morning. My

fingers aren't very cooperative with my keyboard...

butch -- mobiusloop2-alot of us with KD have back problems. The reason is

our protruding stomachs and weakened muscles trying tokeep us balanced and

straight.

john-c. -- Age related, Pat

patrick -- John, you're right. I got a haircut this week, and since I

turned 52, my hair has started turning gray...

john-c. -- understood :)

susannew -- Please describe the Trinucleotide repeat to everyone... Thanks.

dr.-katz -- Trinucleotide (CAG) repeats are part of the DNA and there is

one of these repeats in the androgen receptor gene. For some reason, the

DNA repair mechanism can have a hard time with these repeats and they grow

beyond the usual size. The large size of these repeats probably (note the

word is probably) makes the protein that the gene makes unstable or

ineffective or deleterious to the cell somehow. In KD the repeat is right

in the gene but in other similar repeat disease the repeat is not in a

part of the gene that codes for a protein. The tricky question in these

other conditions is how the repeat does it's damage. Believe it or not the

story is still not finished.

susannew -- 15 minutes before chat closes...

patrick -- Does current research still hold that there is a relationship

between the number of CAG repeats and KD symptoms' severity and/or

progression?

susannew -- Dr. Merry at Thomas Jefferson University is one of many

researchers trying to understand that!

patrick -- Follow on to CAG repeats: is 'founder effect' still considered

valid? (This means as you move up the family tree, the number of CAG

repeats increases).

dr.-katz -- Patrick---I am not sure about the relationship in KD. In this

disease the repeat sizes are relatively small so the relationship may be

hard to see. In most other diseases the link is bigger repeat worse

disease that begins earlier in life.

dr.-katz -- Founder effect---actually means that the whole disease comes

from a single person. You see this in some diseases where everyone in one

small area had the same great-great-great-....grandfather and everyone

turns out to have the same type of mutation. The term you are looking for

is anticipation (as in ketchup). That means the repeats are unstable and

each generation gets it earlier. In KD you might expect a later generation

to get the disease earlier than a first generation as different women

carry it down the tree.

speedy -- thanks dr katz & susanne four chat this morning. See you later

got to go.

speedy -- {goodbye speedy}

allanr -- the tree question is a good one; people ask me where this cag

repeat starts; any ideas?

patrick -- Dr. K, reference Alan's question: do you think KD is begun by a

spontaneous AR gene mutation, or do all known KD patients exhibit familial

inheritance?

dr.-katz -- Allan--it is thought that there is always some instability to

these repeats. The main issue is SPLICING the pieces back togehter when

DNA goes through its natural cutting process. THere is a miniscule risk

for the first expansion and once it occurs there is even more risk of an

even bigger expansion. THe topic is deep but I can discuss it more when my

fingers wake up.

mobiusloop2 -- Thanks Dr. Katz. Maybe I can go back to bed and catch up on

that sleep I lost

susannew -- 5 minutes til chat closes...

susannew -- Thank you Dr. Katz for joining us today. We appreciate your

being with us to answer questions. Please keep in touch. KDA email:

This e-mail address is being protected from spambots. You need JavaScript enabled to view it Website: www.kennedysdisease.org

butch -- Thanks Dr. Katz for joining us this morning. Hope you gained some

insight into our conditions and thanks for answering our many questions.

THANKS!!

billeric -- Thanks Dr. Katz and Susanne. This has been an excellent chat.

john-c. -- mobiusloop2; good of you to get up so early and share the time with us.

susannew -- Your welcome - We are always learning about KD and something

always comes out in the chats from those in attendance that we didn't know

before. There is definitely power and information in numbers!

dr.-katz -- Thanks to all. I learned something as well. I hope everything

gets solved in the near future.

allanr -- thx, dr; that makes sense. And thanks for a great chat -- thx to

you too susanne

billeric -- {goodbye billeric}

allanr -- oops, susanne

butch -- Signing off for now. See you all at the next chat.

susannew -- Thanks Allan for referring Dr. Katz to us!

butch -- {goodbye butch}

patrick -- Dr. K, what kind of specialist would know about KD from the

angle of androgen insensitivity in adolecents? I'm wondering if there is a

treatment available for boys with KD which might preclude gynecomastia,

testicular atrophy, etc.

dr.-katz -- Patrick--endocrinology should know that.