Re: Re: MSA & OPCA

[Guest guest]

Pam,

Last time today I promise. You're very perceptive.

Yes I have two very urgent needs to know about this

disease.

First (and most significantly) my brother and I have

a very close relationship. We are separated by 1 year

in age (he's older) and we've always been referred

to as " Larry & Jerry " as if we were twins and we've

always had a closeness in our relationship that is

similar twins. He was always my hero and he rescued

me from a lot " dangers " in my earlier years. I am

simply devastated by his illness. I was with him

when he got his diagnosis and we cried on each

other's shoulders when we got to the parking lot

after the doctor's visit. I plan to be and do all

that I can for him and his wife as we deal with his

illness. For now, I am doing his home repairs and

keeping him active (we just went to a hockey game

and we're making plans to go to a Nascar race in May).

Secondly, I have two wonderful children (a son and a

daughter) both just graduated from college with exciting

careers and one married and one getting married

in May. Both are of course planning to have children.

I have decided in my own mind that I can and will deal

with my own risk (if any) for acquiring the disorder,

but as anyone who is a parent will understand, I

shudder at the possiblity that I pass this risk on to

my children or their children. I absolutely do not

want to have them live their lives in the shadow

of the risk -- which of course is not within my power

to control.

So, for both of these reasons, I am trying to understand

and come to grips with whatever form of ataxia our family is

confronting. Would I wish that Larry's diagnosis of MSA

is correct (and therefore sentence him to a more progressive

form of the disorder) just so that the hereditary aspect

would not be a concern to me or my children? Absolutley not.

I am always looking for and eager to see any indication

in the materials on this list or the ataxia sites that

suggest he might have one of the slowly progressive ataxias

that would hold out more promise for a slower progression

of his symptoms. I also refuse (even though we got some

disappointing news on stem research today) to give up on

the hope there will a treatment in the near future.

I put that in my prayers every night.

Thanks for listening.

Jerry

Re: MSA & OPCA

Your questions are great ones Jerry and you're taking me to the limits of my

knowledge on the subject.

> Patients may present after about age 20 with OPCA - either

> hereditary or sporadic. If they present before age 51

> they are less likely to progress to MSA. If the present

> after 51 about a fourth will progress to MSA.

Well my mother-in-law presented with symptoms at about age 48 or 49 I think.

She was diagnosed at age 51 and died at age 55. Although we don't know for

sure it was MSA(could have been PSP or even CBGD) and there was no autopsy

done, she was told OPCA as her diagnosis so I am assuming due to her rapid

progession that it was MSA. In her case she wouldn't fit the below age 51

criteria. There is always an exception and these are generalities based on

a small sample size of patients.

> MSA is fairly well believed to be not familial

> (at least I read it that way) so if you presented with

> OPCA and progressed to MSA you had sOPCA. Yes?

Correct. MSA is NOT familial, it's " sporadic " . If you have MSA you will

not pass it on to the next generation.

> OH, male impotence, and anal sphincter weakness are

> basically diagnostic of MSA vs. OPCA. Yes?

They can indicate MSA but I don't think they necessarily rule out other

similar disorders. Sorry.. can't help you with this one, this is a question

for an experienced neurologist.

> MSA is more progressive than OPCA. Yes?

One indicator of MSA is the speed of progression yes.

> If Larry's chief complaints are

>fatigue, balance, OH, and urinary incontinence/urgency

>(he hasn't discussed impotence or bowel problems with

>me if he is having those issues), then does tend to

>put him in the SDS category as opposed OPCA or SND?

OH and incontinence point to autonomic problems. Fatigue could be indicative

of any neuro disorder. Balance is usually associated with OPCA/ataxia but

is also related to several other neuro disorders. Have you seen the

diagnostic criteria for possible and probable MSA? It points out that

several symptoms are needed from each of 3 or 4 categories before a

diagnosis of possible or probably MSA should be made. This was what came

out of the Consensus Statement on MSA in 1998. I'll dig it up and post it

today.

I admire your thoroughness is trying to understand these disorders. I

suspect that besides being worried about your brother and what he can

expect, you also are worried about your own health and that of your other

family members. This worry is what drove me to understand these disorders

as well. My husband is one of 6 siblings and I was worried he would inherit

what his mom had. I'm reasonably sure that she had MSA and it was therefore

sporadic and will not come up again in any of her family members.

Take care,

Pam

[Guest guest]

Jerry,

My comments may sound off the wall, but maybe they will give you some words

of encouragement.

We are the parents of three adult sons who now have 5 children among them.

We are also concerned about what we may have passed on, but we must look at

the future.

Several years ago when our first son was born was just about the time that

the wall went up in Berlin. I can remember being so very depressed about

that siuation and the fact that I had brought a child into this world to

face all of the problems that wall might bring. I actually sat and cried,

for how long I do not remember. I do remember feelings of great dispair.

Now, we have lived through that and the Berlin wall is down. Of course with

boys in our home, we have lived through exciting and sad times. Now we are

enjoying beautiful grandchildren.

My husband's father died in an accident at 56. His father died at 32 from

the flu/heart attack when is son was only three weeks old. My husband has

out lived both of them as he is almost 69 years old. I realize that we can

not ask my husband's fathers who are gone, but I sometimes wonder (even

knowing that my husband has been ill for 10-15 years), if they would have

liked the chance to live longer even if they had been ill.

I guess, my point is, if I have one, is to try to live for today. We can

not rule out all problems. Once they find a cause/cure for MSA in whatever

form, there will be some other major problem that will effect many.

I'm not any better than you in trying to work through this stuff. I am

worried about my sons, especially. I get those crying jags also, when I

think that I just can not do another thing today to help my husband.

Your brother must be very proud of you that you are by his side and helping

with entertainment as well as the work. He is a lucky fellow to have you.

Marilyn in TN

[Guest guest]

Greetings Jerry!

Good news is that MSA can not be inherited. So your children should not

have any problem with this.

And as to your relationship with your brother. It's very special. So, just

enjoy being together and continue to enjoy life ... as your plan to goto a

NASCAR race shows you are doing. Though it will be hardest for you, move

forward. That will make it easier for your brother. And always remember,

he's just your brother. MSA just is a new part of his Journey. And yours

as someone who loves and cares for him.

God gives us unusual blessings. While we can argue that MSA is only a

curse. What we do with it is what can transform it into a blessing. God

brings order out of chaos. Life out of death. And blessing out of curse.

Embrace the chance you have together and rejoice in your life together.

Regards,

=jbf=

B. Fisher

< jbf, who always gets more philosophical when he has a long / bad day at

work ... but he hopes it helps others >

[Guest guest]

Greetings Jerry!

You mentioned:

> ... he is being told to speak slowly, the tongue exercises, etc.

As a speech and theater minor (high school and college), I can personally

tell you how important this is. Most people can not tell I have any speech

problems. I just sound a lot slower and more deliberate. Unfortunately,

longer pauses can lead some people to assume there's not much upstairs. If

someone becomes rude like that, tell Larry to just laugh and note he has

speech problems but understands quite well! A polite rebuke helps the mood.

However, it really sounds like Jerry is adjusting well to dealing with his

situation. I think you are right that feeling as if he as more control of

the situation is a big help.

Unfortunately, I am not able to help with blood test.

Regards,

=jbf=

B. Fisher

[Guest guest]

Does anyone know what hypertonic-akinetic syndrome is?

This was mentioned in one of the articles I found on the site mentioned

below.

Tricia Jensen

pajensen@...

Re: Re: MSA & OPCA

>

>

> Greetings Jerry!

>

> Good news is that MSA can not be inherited. So your children should not

> have any problem with this.

>

> And as to your relationship with your brother. It's very special. So,

just

> enjoy being together and continue to enjoy life ... as your plan to goto a

> NASCAR race shows you are doing. Though it will be hardest for you, move

> forward. That will make it easier for your brother. And always remember,

> he's just your brother. MSA just is a new part of his Journey. And yours

> as someone who loves and cares for him.

>

> God gives us unusual blessings. While we can argue that MSA is only a

> curse. What we do with it is what can transform it into a blessing. God

> brings order out of chaos. Life out of death. And blessing out of curse.

> Embrace the chance you have together and rejoice in your life together.

>

>

> Regards,

> =jbf=

>

> B. Fisher

>

> < jbf, who always gets more philosophical when he has a long / bad day at

> work ... but he hopes it helps others >

>

>

>

[Guest guest]

Pat,

Hypertonic = Abnormal tension of arteries or muscles

Akinetic = Lack of movement.

This is usually due to muscle spasm or unusual stiffness of the muscles due

to muscle spasm. It is also known as acinesia.

God Bless,

Jim stark

Re: Re: MSA & OPCA

> >

> >

> > Greetings Jerry!

> >

> > Good news is that MSA can not be inherited. So your children should not

> > have any problem with this.

> >

> > And as to your relationship with your brother. It's very special. So,

> just

> > enjoy being together and continue to enjoy life ... as your plan to goto

a

> > NASCAR race shows you are doing. Though it will be hardest for you,

move

> > forward. That will make it easier for your brother. And always

remember,

> > he's just your brother. MSA just is a new part of his Journey. And

yours

> > as someone who loves and cares for him.

> >

> > God gives us unusual blessings. While we can argue that MSA is only a

> > curse. What we do with it is what can transform it into a blessing.

God

> > brings order out of chaos. Life out of death. And blessing out of

curse.

> > Embrace the chance you have together and rejoice in your life together.

> >

> >

> > Regards,

> > =jbf=

> >

> > B. Fisher

> >

> > < jbf, who always gets more philosophical when he has a long / bad day

at

> > work ... but he hopes it helps others >

> >

> >

> >

[Guest guest]

, Kaye and Doug,

Thank you for the information in response to my recent

posting about MSA and heredity. I think thats what is

so great about this site is that there are so many

caring, informed people who understand what and why

you're asking about MSA issues and who don't hesitate

to give answers and support. I appreciate and admire

all of you.

I frankly feel selfish and very guilty asking about

whether I or my children may acquire a disease that

my brother has no choice but to deal with every day

of his life, but the honest truth is I continue to

be very concerned about it. The importance of this

issue to me was summed up perfectly in Kaye's posting.

While I cannot deny that I have had many moments of

fear, dread and concern for my own risk of acquiring

MSA, my over-riding concern about the possible familial

aspect of my brother's illness is for my children.

And my wife and I can identify with the profoundity

of the emotions Kaye and felt for 8 years when

they thought their children might be at risk. When

my wife Ladona and I talked about early possible dx's

for Larry which included the hereditary Ataxias, we

were also overwhelmed with issues about whether they

should be told (and tested) because our daughter who

has been married for 2 years plans to have children

and our son will be married in May and we felt he

and his fiance should be told that he could be at

risk. In fact, there was added concern at that

time because we had read that some of the Ataxias are

known to " anticipate " which apparently means that

they have a tendency to occur earlier and more

agressively in subsequent generations.

I do agree that with the exception of the information

that prompted this posting, all of the other information

I have read concurs with the non-hereditary position on

MSA. Kaye's response concerning the transitions

in 's dx also helped to clarify some things for me.

I previously posted a similar inquiry which was answered

but left me feeling a bit vague about OPCA and the fact

OPCA can be both hereditary and sporadic yet OPCA can

and does progress to become MSA. Wouldn't that mean

that only sporadic forms of OPCA progress to MSA (if

one accepts that MSA is non-hereditary)?

Thank you all for the reassurance. Now I will try

to re-focus my energies on the more immediate and

important matter which is not myself but my brother.

We're shopping for grab bars to install in the

shower.

Best regards,

Jerry

Re: Re: MSA & OPCA

jerry,

my husband's original diagnosis was OPCA in 1992.

At that initial finding, we were told that it was most

likely of the dominant kind, meaning that my children

had a 50/50 chance of developing this. Needless to

say, both john and i were tortured knowing this. However,

as time went on and john's symptoms " developed " and

more and more history was obtained, his diagnosis

was changed from dominant (by the way, his mom is

alive, well and symptomless, his dad had a massive

heart attack and died at age 59, also symptomless) to

sporadic, which then meant our kids had a 1 in 4 chance.

still, not very comforting and we cried many nights

for many years worrying over this. and then, finally,

in march 2000 his diagnosis was changed to MSA (this

because of the severe and rapid progression of his

symptoms) and it was on march 30, 2000 that a well

respected movement disorder doctor said " to the

best of my knowledge, there are no known or documented

family histories where there are more than one case of

MSA in a family " - meaning an entire family, not just

nuclear. john and i cried all the way home that day, this

time, for joy. i had never let on to either of our children

how concerned we had both been for eight years, but

i feel that burden has been lifted. and, of course, my

hope is that soon.....soon soon soon, there will be joy

for many more when a treatment is perfected.

regards

kaye

[Guest guest]

Thank you Jim. I get muscle spasms and cramping all the time. I thought

maybe it was referring to something like myoclonic jerks, which I get

everyday also.

Tricia Jensen

pajensen@...

Re: Re: MSA & OPCA

>

>

> > Does anyone know what hypertonic-akinetic syndrome is?

>

[Guest guest]

To all those who have kindly posted information

for me that they have previously posted for others,

my apologies. I have finally figured out that I can

access the archived postings and I am now able to

read the earlier postings on many of the same

topics I have requested information about.

Better late than never!

Jerry Cash

Re: Re: MSA & OPCA

jerry,

my husband's original diagnosis was OPCA in 1992.

At that initial finding, we were told that it was most

likely of the dominant kind, meaning that my children

had a 50/50 chance of developing this. Needless to

say, both john and i were tortured knowing this. However,

as time went on and john's symptoms " developed " and

more and more history was obtained, his diagnosis

was changed from dominant (by the way, his mom is

alive, well and symptomless, his dad had a massive

heart attack and died at age 59, also symptomless) to

sporadic, which then meant our kids had a 1 in 4 chance.

still, not very comforting and we cried many nights

for many years worrying over this. and then, finally,

in march 2000 his diagnosis was changed to MSA (this

because of the severe and rapid progression of his

symptoms) and it was on march 30, 2000 that a well

respected movement disorder doctor said " to the

best of my knowledge, there are no known or documented

family histories where there are more than one case of

MSA in a family " - meaning an entire family, not just

nuclear. john and i cried all the way home that day, this

time, for joy. i had never let on to either of our children

how concerned we had both been for eight years, but

i feel that burden has been lifted. and, of course, my

hope is that soon.....soon soon soon, there will be joy

for many more when a treatment is perfected.

regards

kaye

[Guest guest]

Jerry,

Yes it does follow and is accepted that only sporatic OPCA is considered

hereditary. I read Doug's posting and don't remember any twins both having MSA,

in fact someone did a study on identical twins and none of the sets had more

than one twin with MSA. We do get unconfirmed reports of people having MSA and

if you don't follow up with a movement disorder specialist, there is an

excellent chance you may have been misdiagnosed. Even with a movement disorder

specialist, there is a chance you will be misdiagnosed as all of these brain

disorders have much the same symptoms. The only certain diagnoses is an

autopsy.

You want to concentrate on finding a doctor that will work with the patient and

the caregiver to find the most relief from the symptoms. If you can extend life

and quality of life, they may find a cure in time for the patient.

My wife's most predominate symptom is the balance problem, which indicates OPCA,

but she started with the toe drop of PD as well as the microwriting which

accompanies PD (as well as othr disorders). She also has OH (BP drop on

standing), so she has a little of all three forms of MSA. Charlotte has had

symptoms since 1987-88, was diagnosed as PD in 1990 and saw a noted movement

disorder specialist, who said it could be OPCA about 1994. n 1995, she was seen

at NIH and they decided after noting all her records (including two MRI's a year

apart) that their opinion was MSA.

As far as the next generation, let's concentrate our energy on getting Congress

to push all research which could lead to a cure for all the brain disorders.

The idea of putting more money into AIDS and Cancer research, while banning the

most promising research for Parkinson's is NOT in the Nation's best interest.

That could even help many of the people on this list presently.

If you are extremely concerned, have the DNA tests run for known ataxias, that

will tell you about known genetic problems at least. Patients should also

consided an autopsy as a benefit to their heirs as well, in case they later

discover another bad gene or cure.

Take care, Bill and Charlotte

-----------------------------------------------------------

Jerry Cash wrote:

> , Kaye and Doug,

>

> Thank you for the information in response to my recent

> posting about MSA and heredity. I think thats what is

> so great about this site is that there are so many

> caring, informed people who understand what and why

> you're asking about MSA issues and who don't hesitate

> to give answers and support. I appreciate and admire

> all of you.

>

> I frankly feel selfish and very guilty asking about

> whether I or my children may acquire a disease that

> my brother has no choice but to deal with every day

> of his life, but the honest truth is I continue to

> be very concerned about it. The importance of this

> issue to me was summed up perfectly in Kaye's posting.

> While I cannot deny that I have had many moments of

> fear, dread and concern for my own risk of acquiring

> MSA, my over-riding concern about the possible familial

> aspect of my brother's illness is for my children.

> And my wife and I can identify with the profoundity

> of the emotions Kaye and felt for 8 years when

> they thought their children might be at risk. When

> my wife Ladona and I talked about early possible dx's

> for Larry which included the hereditary Ataxias, we

> were also overwhelmed with issues about whether they

> should be told (and tested) because our daughter who

> has been married for 2 years plans to have children

> and our son will be married in May and we felt he

> and his fiance should be told that he could be at

> risk. In fact, there was added concern at that

> time because we had read that some of the Ataxias are

> known to " anticipate " which apparently means that

> they have a tendency to occur earlier and more

> agressively in subsequent generations.

>

> I do agree that with the exception of the information

> that prompted this posting, all of the other information

> I have read concurs with the non-hereditary position on

> MSA. Kaye's response concerning the transitions

> in 's dx also helped to clarify some things for me.

> I previously posted a similar inquiry which was answered

> but left me feeling a bit vague about OPCA and the fact

> OPCA can be both hereditary and sporadic yet OPCA can

> and does progress to become MSA. Wouldn't that mean

> that only sporadic forms of OPCA progress to MSA (if

> one accepts that MSA is non-hereditary)?

>

> Thank you all for the reassurance. Now I will try

> to re-focus my energies on the more immediate and

> important matter which is not myself but my brother.

> We're shopping for grab bars to install in the

> shower.

>

> Best regards,

>

> Jerry

>

> Re: Re: MSA & OPCA

>

> jerry,

>

> my husband's original diagnosis was OPCA in 1992.

> At that initial finding, we were told that it was most

> likely of the dominant kind, meaning that my children

> had a 50/50 chance of developing this. Needless to

> say, both john and i were tortured knowing this. However,

> as time went on and john's symptoms " developed " and

> more and more history was obtained, his diagnosis

> was changed from dominant (by the way, his mom is

> alive, well and symptomless, his dad had a massive

> heart attack and died at age 59, also symptomless) to

> sporadic, which then meant our kids had a 1 in 4 chance.

> still, not very comforting and we cried many nights

> for many years worrying over this. and then, finally,

> in march 2000 his diagnosis was changed to MSA (this

> because of the severe and rapid progression of his

> symptoms) and it was on march 30, 2000 that a well

> respected movement disorder doctor said " to the

> best of my knowledge, there are no known or documented

> family histories where there are more than one case of

> MSA in a family " - meaning an entire family, not just

> nuclear. john and i cried all the way home that day, this

> time, for joy. i had never let on to either of our children

> how concerned we had both been for eight years, but

> i feel that burden has been lifted. and, of course, my

> hope is that soon.....soon soon soon, there will be joy

> for many more when a treatment is perfected.

>

> regards

> kaye

>

>

[Guest guest]

In a message dated 3/15/01 9:47:35 AM Eastern Standard Time, Jerry@...

writes:

<< Wouldn't that mean

that only sporadic forms of OPCA progress to MSA (if

one accepts that MSA is non-hereditary)? >>

this is the way i understand it jerry and even

at that, it isn't ALL sporadic OPCA that progresses

to MSA.

as for testing.....i'd think long and hard about that.

and i did. and decided against it. the one thing

that nagged me about that was that if my daughter

or son had tested positive....and were so young....'

the fear then increases as to whether or not any

health insurance company would cover them.

of course, if you can keep the results confidential....

but i don't think that's the case. besides i cannot

help but believe that a treatment or cure will be

found in near future. hopefully your brother will

benefit. i do feel he should remain as active and

independent for as long as he can. even healthy

people will " lose it " if they don't " use it " .

regards

kaye

[Guest guest]

Dear Doug,

my husband was recently diagnosed with OPCA from Dr. Gilman at the Univ. of

MI. He diagnosed my husband in having the sporatic type, which he said was

not hereditary. There is no history of any type of movement disorders in

his family. So, I am assuming my children will not be effected since he

said it was not hereditary. Just wanted to agree with you on the difference

between sporatic and hereditary OPCA for those concerned. Thank you,

Jeanie

>From: dscaprette@...

>Reply-To: shydrager

>To: shydrager

>Subject: Re: MSA & OPCA

>Date: Fri, 16 Mar 2001 15:26:04 -0000

>

>Bill,

>

>Hope you're feeling better. I think you may still be a bit groggy

>though.

>

>

> > Yes it does follow and is accepted that only sporatic OPCA is

>considered

> > hereditary.

>

>OPCA may be hereditary OR sporadic. Sporadic means non-hereditary.

>Only sporadic, that is, non-hereditary OPCA is associated with MSA.

>

>Pam posted a paper that concluded that only about one quarter of

>Sporadic OPCA develops into MSA. The other, 3/4s of the cases

>evidently have some other underlying cause. That caught my eye,

>because some of those other underlying causes might be treatable.

>Or I suppose there may be more yet unidentified hereditary ataxias,

>or known hereditary ataxias misdiagnosed as sporadic.

>

> >I read Doug's posting and don't remember any twins both having MSA,

> > in fact someone did a study on identical twins and none of the sets

>had more

> > than one twin with MSA. We do get unconfirmed reports of people

>having MSA and

> > if you don't follow up with a movement disorder specialist, there

>is an

> > excellent chance you may have been misdiagnosed.

>

>About two years ago, before the list was on egroups, a fellow posted

>(I think about having attended a conference) and he mentioned in

>passing that he and his identical twin brother both had MSA. I asked

>him if he and his brother had been in touch with researchers and

>he wrote back to the list and said yes.

>

>I never heard anything more.

>

>Obviously he and his brother were not a part of the study you

>mention, or the Vandebilt study of 400 patients that found no

>second cases within their families.

>

>Doug in Greeneblt MD USA

>

>

>

>

>

[Guest guest]

Greetings Jeanie!

You wondered:

> ... There is no history of any type of movement disorders

> in his family. So, I am assuming my children will not be

> effected since he said it was not hereditary. Just wanted

> to agree with you on the difference between sporatic and

> hereditary OPCA for those concerned. ...

Actually, all that can be stated is that no one else in the family has a

similar disorder. Unfortunately it is possible (thought extremely unlikely

and VERY rare) that his case is a spontaneous mutation that will be passed

to children. Again, this is EXTREMELY unlikely. But because it is

possible, no competent doctors would put it in writing that it won't happen.

But if you were going to bet on your children getting this ... then bet

against it! It is VERY, VERY unlikely that Sporadic OPCA would be passed

along to the children. That is, of course, good news for all of us.

And, of course, if Dr Gilman thinks this is MSA rather than 'just' Sporadic

OPCA, then studies have shown no genetic links (even to children).

Hope that helps.

Regards,

=jbf=

B. Fisher