Re: Need some advices for my situation

[Guest guest]

This is a guess, but maybe the use of Nitrogen (like Nitrious Oxide) triggered

the manisfestation of your CMT. Or even the Stress on your young body.

I too was about 7 when I first showed signs of CMT, falling frequently playing

dodgeball. I have a recessive form of Type 2 and am currently participating in

the Miami Institute of Human Geonomics research on CMT 2.

Do you have the writtten results of your EMGs? This is how I found out I had CMT

2. It is impossible to 'guess' what type of CMT you have. Your EMG results

should indicate either Type 1 or 2. My last EMG was entirely normal with some

reinnervation, which is indicative of Type 2, and since I have no family history

of CMT, my doctor believes it is a recessive form.

It was common years ago to misdiagnose someone with Polio who really had CMT.

Frederick's Ataxia can mimic CMT.

Perhaps you might want to pursue genetic testing. Athena Diagnostics in Boston

does comprehensive testing, City of Hope in Los Angeles is testing for CMT 2

only.

I don't have many of the symptoms of CMT, however, I do have tremors, and in my

teen years had bad balance and much fatigue. My symptoms seem to come and go -

although the burning feet at random has been a constant since childhood.

Although CMT is considered to be progressive, mine has been so slowly

progressive I have barely noticed.

As for doctors in Asia, maybe Caroline, one of our members in Taiwan can help.

The only one I know of is Dr. Hitoshi Yasuda, Third Dept. of Medicine at Shiga

University of Medical Science, Otsu, Japan

Or perhaps if you contact Dr. Josh Burns Institute for Neuromuscular Research,

The Children's Hospital at Westmead, Locked Bag 4001, Westmead 2145, Sydney, New

South Wales, Australia. Perhaps he knows of CMT medical professionals working in

Asia. Or Dr. Garth A. Nicholson at the University of Sydney.

Besides Dr. Shy, CMT experts in the USA include Drs. Greg , Bird,

Phil Chance (all at University of Washington), Dr. Gareth Parry at the

University of Minnesota, Dr. Dyck and team at the Mayo clinic in

Minnesota, Dr. Younger in NYC among others.

The skin biopsy is done in other countries too, example from Italy

http://www.skinbiopsy.org/

The genetic test from Athena will determine your type and subtype of CMT. I'm

uncertain how this test can be ordered out of the US. But I suppose your doctor

there can write an order for it. If you are planning a family, genetic testing

followed by genetic counseling will be informative.

We have some information of PGD in our Files section. It is only available for

certain types of CMT, for example, 1A, 1B, 1E, 2E, X and by now some others.

If you are walking on the outside of your foot, maybe an AFO would help.

Gretchen

[Guest guest]

Hello,

I am Caroline. I am now in Taipei, Taiwan.

I got my DNA test in National Taiwan University, Taipei, Taiwan.

The doctor got his degree from Harvard University and Hopkins

University.

People (citizen) in Taiwan have national health insurance. So, we don't have to

pay much to get medical treatment, test, and so on.

Compared to USA, I think the test cost should be cheaper in Taiwan, even for

not Taiwan citizen.

By the way, Taiwan is different from China. We are a democratic country. I

enjoy the same freedom here as in USA.

Please feel free to let me know if you might need more information.

Please take care

Caroline

>

[Guest guest]

Thank you so much for helping me. I have couple more questions that I could not

find the answering while searching over the internet. Could you please take your

time to help me out as well?

1. I have had 3 EMG test before but I only heard about EMG the first time about

2 weeks ago after my third EMG. Could the EMG let you know if you have type 3 or

4?

2. I have a written result of my EMG, so what do I need to look for in order to

know that I have CMT?

3. For type 2, could it be caused by spontaneous mutation of genes rather than a

recessive form?

4. Do you know if there is a progress in PGD in order to help other types of CMT

patients than the ones you listed above, such as 2C or 4C, to prevent the odds

of passing CMT to children?

5. Could you let me know how to contact Caroline so that I could ask her about

the specialists about CMT in Asia?

6. I know that there is difference between the cause of different type of CMT,

but assuming that the treatment of CMT 1A is available within 10 years or so, do

you know any idea whether that method could be somehow using for other type in

order to accelerate the process of getting the treatment for other types of CMT?

>

> This is a guess, but maybe the use of Nitrogen (like Nitrious Oxide) triggered

the manisfestation of your CMT. Or even the Stress on your young body.

>

> I too was about 7 when I first showed signs of CMT, falling frequently playing

dodgeball. I have a recessive form of Type 2 and am currently participating in

the Miami Institute of Human Geonomics research on CMT 2.

>

> Do you have the writtten results of your EMGs? This is how I found out I had

CMT 2. It is impossible to 'guess' what type of CMT you have. Your EMG results

should indicate either Type 1 or 2. My last EMG was entirely normal with some

reinnervation, which is indicative of Type 2, and since I have no family history

of CMT, my doctor believes it is a recessive form.

>

> It was common years ago to misdiagnose someone with Polio who really had CMT.

>

> Frederick's Ataxia can mimic CMT.

>

> Perhaps you might want to pursue genetic testing. Athena Diagnostics in Boston

does comprehensive testing, City of Hope in Los Angeles is testing for CMT 2

only.

>

> I don't have many of the symptoms of CMT, however, I do have tremors, and in

my teen years had bad balance and much fatigue. My symptoms seem to come and go

- although the burning feet at random has been a constant since childhood.

Although CMT is considered to be progressive, mine has been so slowly

progressive I have barely noticed.

>

> As for doctors in Asia, maybe Caroline, one of our members in Taiwan can help.

The only one I know of is Dr. Hitoshi Yasuda, Third Dept. of Medicine at Shiga

University of Medical Science, Otsu, Japan

>

> Or perhaps if you contact Dr. Josh Burns Institute for Neuromuscular Research,

The Children's Hospital at Westmead, Locked Bag 4001, Westmead 2145, Sydney, New

South Wales, Australia. Perhaps he knows of CMT medical professionals working in

Asia. Or Dr. Garth A. Nicholson at the University of Sydney.

>

> Besides Dr. Shy, CMT experts in the USA include Drs. Greg , Bird,

Phil Chance (all at University of Washington), Dr. Gareth Parry at the

University of Minnesota, Dr. Dyck and team at the Mayo clinic in

Minnesota, Dr. Younger in NYC among others.

>

> The skin biopsy is done in other countries too, example from Italy

http://www.skinbiopsy.org/

>

> The genetic test from Athena will determine your type and subtype of CMT. I'm

uncertain how this test can be ordered out of the US. But I suppose your doctor

there can write an order for it. If you are planning a family, genetic testing

followed by genetic counseling will be informative.

>

> We have some information of PGD in our Files section. It is only available for

certain types of CMT, for example, 1A, 1B, 1E, 2E, X and by now some others.

>

> If you are walking on the outside of your foot, maybe an AFO would help.

>

> Gretchen

>

[Guest guest]

I forgot to ask in this previous message that surgery on other part of

ohttp://clinicaltrials.gov/ct2/show/NCT00541164?term=charcot+marie+tooth & rank=1n\

e's body could make the symptoms accelerating. Is it true at all since I heard

that many people have their feet reconstructive and still can walk pretty strong

even at the age of late 50 or 60?

>

> This is a guess, but maybe the use of Nitrogen (like Nitrious Oxide) triggered

the manisfestation of your CMT. Or even the Stress on your young body.

>

> I too was about 7 when I first showed signs of CMT, falling frequently playing

dodgeball. I have a recessive form of Type 2 and am currently participating in

the Miami Institute of Human Geonomics research on CMT 2.

>

> Do you have the writtten results of your EMGs? This is how I found out I had

CMT 2. It is impossible to 'guess' what type of CMT you have. Your EMG results

should indicate either Type 1 or 2. My last EMG was entirely normal with some

reinnervation, which is indicative of Type 2, and since I have no family history

of CMT, my doctor believes it is a recessive form.

>

> It was common years ago to misdiagnose someone with Polio who really had CMT.

>

> Frederick's Ataxia can mimic CMT.

>

> Perhaps you might want to pursue genetic testing. Athena Diagnostics in Boston

does comprehensive testing, City of Hope in Los Angeles is testing for CMT 2

only.

>

> I don't have many of the symptoms of CMT, however, I do have tremors, and in

my teen years had bad balance and much fatigue. My symptoms seem to come and go

- although the burning feet at random has been a constant since childhood.

Although CMT is considered to be progressive, mine has been so slowly

progressive I have barely noticed.

>

> As for doctors in Asia, maybe Caroline, one of our members in Taiwan can help.

The only one I know of is Dr. Hitoshi Yasuda, Third Dept. of Medicine at Shiga

University of Medical Science, Otsu, Japan

>

> Or perhaps if you contact Dr. Josh Burns Institute for Neuromuscular Research,

The Children's Hospital at Westmead, Locked Bag 4001, Westmead 2145, Sydney, New

South Wales, Australia. Perhaps he knows of CMT medical professionals working in

Asia. Or Dr. Garth A. Nicholson at the University of Sydney.

>

> Besides Dr. Shy, CMT experts in the USA include Drs. Greg , Bird,

Phil Chance (all at University of Washington), Dr. Gareth Parry at the

University of Minnesota, Dr. Dyck and team at the Mayo clinic in

Minnesota, Dr. Younger in NYC among others.

>

> The skin biopsy is done in other countries too, example from Italy

http://www.skinbiopsy.org/

>

> The genetic test from Athena will determine your type and subtype of CMT. I'm

uncertain how this test can be ordered out of the US. But I suppose your doctor

there can write an order for it. If you are planning a family, genetic testing

followed by genetic counseling will be informative.

>

> We have some information of PGD in our Files section. It is only available for

certain types of CMT, for example, 1A, 1B, 1E, 2E, X and by now some others.

>

> If you are walking on the outside of your foot, maybe an AFO would help.

>

> Gretchen

>

[Guest guest]

Hello Caroline,

Thank you so much for emailing me. Can I ask you how long that you have had CMT

for and what type of that. If it is not private, could you please share with me

the progress of it since you know about the decease?

About the CMT decease, can you please give me the name of the doctor who is

specialized about CMT in Taiwan and some more countries around Asia, if you have

any chance to know them?

About the DNA test, can I ask you if the they test for the full panel with as

many gene as in the U.S or just some types only? How long does it take to get

the result?

As mentioned earlier, I am planning to have children in the future, do you know

if PGD technology is available in Taiwan yet?n,

Again, words cannot describe how much I appreciate your help. I look forward to

hearing from you soon. In the mean time, please take care of yourself.

Best regards,

Minh Vo

________________________________

From: Caroline Liu <@...>

Sent: Wednesday, September 16, 2009 9:22:01 AM

Subject: Re: Need some advices for my situation

Hello,

I am Caroline. I am now in Taipei, Taiwan.

I got my DNA test in National Taiwan University, Taipei, Taiwan.

The doctor got his degree from Harvard University and Hopkins

University.

People (citizen) in Taiwan have national health insurance. So, we don't have to

pay much to get medical treatment, test, and so on.

Compared to USA, I think the test cost should be cheaper in Taiwan, even for not

Taiwan citizen.

By the way, Taiwan is different from China. We are a democratic country. I

enjoy the same freedom here as in USA.

Please feel free to let me know if you might need more information.

Please take care

Caroline

>

[Guest guest]

Surgery, any surgery, on anyone, with or without CMT, is Stress. The stress

itself that a human body goes through in a surgical process takes a while to be

processed, and causes the body fatigue, let alone blood supply needs to be built

back up, post-op pain meds give lack of appetite, so weight loss can result in

weakness. With CMT, their is already a fatigue and weakness issue to begin with.

Yes, many people have foot reconstruction later in life. I have seen great

results in some of my friends. I had foot surgery (both feet at the same time)

in childhood, and at age 57, I am still up and walking, leading a very active

life.

Gretchen

[Guest guest]

I don't know if the EMG can distinguish between Type 3 and 4 since both are

recessive.

On the EMG there is a range of numbers, what the range of numbers indicate can

distinguish type 1 from type 2. The physician attending you at the EMG should

have the written report of the results, which would indicate the range and

suggestive response.

Type 2 is still being scrutinized by researchers. Certain types already are

distinguished by mitochondrial aspects as well as genetics. More types are being

identified than before. Sontaneous mutations are extremely rare, however genes

can jump chromosomes. CMT has been in the human family for 6-7 million years, it

is most likely that a case of CMT 2 can be recessive.

I do not have current information on PGD for persons with 2C or 4C. A genetics

counselor would know.

Caroline has already sent you a post from Taiwan.

High thoroughput screening allows for thousands of compounds that will develop

potential treatments. The HTS process can test many compounds, so it seems

likely that a treatment compound for other types of CMT may be found.

Gretchen

[Guest guest]

I've noticed a couple of risks with surgery:

 

1.  When I had knee surgery at the age of 25, the muscles in my calf and thigh

never recovered.  I lost half the strength in six weeks and never got it back. 

Interestingly, when I had surgery on this same knee at the age of 15,

the younger muscles did recover completely.  And, when I had hip surgery at 38,

the proximal muscles completely recovered, even though I was older.

 

My conclusion is that if the nerve degeneration has progressed beyond a certain

degree in the area of the surgery, there is a risk of the muscles not recovering

completely after the surgery.

 

2.  There is also recovery time needed with any surgery.  Even if the surgery

isn't in an area of significant progression, there is still risk of muscles

atrophying throughout the body as a result of the inactivity.  Recoverying these

muscles in areas of significant nerve deterioration can be a challenge.  So, I

would try to limit the down time and, perhaps consider PT while recoverying to

keep things moving, especially in areas of high risk, like lower limbs.

 

From: computer10lhp <computer10lhp@...>

Subject: Re: Need some advices for my situation

Date: Tuesday, September 15, 2009, 9:04 PM

 

I forgot to ask in this previous message that surgery on other part of

ohttp://clinicaltri als.gov/ct2/ show/NCT00541164 ?term=charcot+ marie+tooth &

rank=1ne's body could make the symptoms accelerating. Is it true at all since I

heard that many people have their feet reconstructive and still can walk pretty

strong even at the age of late 50 or 60?

>

> This is a guess, but maybe the use of Nitrogen (like Nitrious Oxide) triggered

the manisfestation of your CMT. Or even the Stress on your young body.

>

> I too was about 7 when I first showed signs of CMT, falling frequently playing

dodgeball. I have a recessive form of Type 2 and am currently participating in

the Miami Institute of Human Geonomics research on CMT 2.

>

> Do you have the writtten results of your EMGs? This is how I found out I had

CMT 2. It is impossible to 'guess' what type of CMT you have. Your EMG results

should indicate either Type 1 or 2. My last EMG was entirely normal with some

reinnervation, which is indicative of Type 2, and since I have no family history

of CMT, my doctor believes it is a recessive form.

>

> It was common years ago to misdiagnose someone with Polio who really had CMT.

>

> Frederick's Ataxia can mimic CMT.

>

> Perhaps you might want to pursue genetic testing. Athena Diagnostics in Boston

does comprehensive testing, City of Hope in Los Angeles is testing for CMT 2

only.

>

> I don't have many of the symptoms of CMT, however, I do have tremors, and in

my teen years had bad balance and much fatigue. My symptoms seem to come and go

- although the burning feet at random has been a constant since childhood.

Although CMT is considered to be progressive, mine has been so slowly

progressive I have barely noticed.

>

> As for doctors in Asia, maybe Caroline, one of our members in Taiwan can help.

The only one I know of is Dr. Hitoshi Yasuda, Third Dept. of Medicine at Shiga

University of Medical Science, Otsu, Japan

>

> Or perhaps if you contact Dr. Josh Burns Institute for Neuromuscular Research,

The Children's Hospital at Westmead, Locked Bag 4001, Westmead 2145, Sydney, New

South Wales, Australia. Perhaps he knows of CMT medical professionals working in

Asia. Or Dr. Garth A. Nicholson at the University of Sydney.

>

> Besides Dr. Shy, CMT experts in the USA include Drs. Greg , Bird,

Phil Chance (all at University of Washington), Dr. Gareth Parry at the

University of Minnesota, Dr. Dyck and team at the Mayo clinic in

Minnesota, Dr. Younger in NYC among others.

>

> The skin biopsy is done in other countries too, example from Italy

http://www.skinbiop sy.org/

>

> The genetic test from Athena will determine your type and subtype of CMT. I'm

uncertain how this test can be ordered out of the US. But I suppose your doctor

there can write an order for it. If you are planning a family, genetic testing

followed by genetic counseling will be informative.

>

> We have some information of PGD in our Files section. It is only available for

certain types of CMT, for example, 1A, 1B, 1E, 2E, X and by now some others.

>

> If you are walking on the outside of your foot, maybe an AFO would help.

>

> Gretchen

>

[Guest guest]

When I had surgery on my left foot, they did a nerve block at the knee. Ever

after, that leg has been numb from the knee down, and the muscles have

atrophied.

When I had surgery on my right foot, I wouldn't let them do the nerve block at

the knee, and that leg is still OK, though numb from mid-ankle. I told them I

didn't need the nerve block, that they could probably do the surgery without and

anesthesia at all and I still wouldn't feel it.

Years ago we had a slowly dying refrigerator. It sort of kept things cold, but

then the power went out for a couple of hours, and the old refrig' was never

able to get cold again. I think our dying nerves are sort of like that old

refrigerator. They do OK until something like surgery interrupts, and they're

not able to recover.

O

[Guest guest]

I just found out the EMG I did about couple months ago. It is kind of confused

me, so I posted here with the hope that you all can give me your opinions on

this.

Here is the summary of my EMG. Please let me know if you need anything else.

" Nerve conduction studies reveal prolongation of the median sensory response

distal latency with reduced amplitude. The ulnar sensory distal latency is

prolonged and demonstrates reduced amplitude. The median motor distal latency is

normal, but the median motor amplitude is reduced. The ulnar motor distal

latency is prolonged and the amplitude is reduced. The proximal conduction

velocities are slowed bilaterally.

Concentric needle electromyography reveals normal insertional activity in all

the tested muscles. There are no findings for fibrillations, positive sharp

waves, or fasciculations. The activated motor units throughout the right upper

extremity demonstrate marked reduced recruitment patterns, variable incresed

motor units, increased compexity and increased duration. I was unable to elicit

activated otor nits in the intrinsic hand muscles. "

>

> I don't know if the EMG can distinguish between Type 3 and 4 since both are

recessive.

>

> On the EMG there is a range of numbers, what the range of numbers indicate can

distinguish type 1 from type 2. The physician attending you at the EMG should

have the written report of the results, which would indicate the range and

suggestive response.

>

> Type 2 is still being scrutinized by researchers. Certain types already are

distinguished by mitochondrial aspects as well as genetics. More types are being

identified than before. Sontaneous mutations are extremely rare, however genes

can jump chromosomes. CMT has been in the human family for 6-7 million years, it

is most likely that a case of CMT 2 can be recessive.

>

> I do not have current information on PGD for persons with 2C or 4C. A genetics

counselor would know.

>

> Caroline has already sent you a post from Taiwan.

>

> High thoroughput screening allows for thousands of compounds that will develop

potential treatments. The HTS process can test many compounds, so it seems

likely that a treatment compound for other types of CMT may be found.

>

> Gretchen

>

[Guest guest]

Vo,

I am not a doctor, nor do I know anything about you, however this report has a

hint of CMT 2. What were the numbers in range?

Gretchen

[Guest guest]

Gretchen,

Thanks for helping me. The hint that you are talking about here is based on the

reduced amplitude, is it correct?

I am not sure what numbers you want to know but I guess you talk about

the velocity m/s. If so, the range will be between 44.2 to 53.0 m/s. Please let

me know your opinions on this. If this is not what you are looking for, please

let me know as well.

I also have some questions, could you please help me as well:

1. CMT1a is the most popular type of CMT, which is the second one?

2. I know that there is many research are ongoing for CMT1a. Could you let me

know if there is any research to find for a treatment of other types of CMT such

as type 2 or 4 are currently performing?

3. Since there are many types of CMT, assuming that they can find a treatment

for CMT1a, do you think that method could be applied for other type as well? If

it does not, is there any guess of how long it could be take to find a treatment

for other types?

Again, thank you so much for spending your time to help me. I look forward to

hearing from you soon.

Minh Vo

________________________________

From: gfijig <gfijig@...>

Sent: Saturday, September 19, 2009 6:59:04 AM

Subject: Re: Need some advices for my situation

Vo,

I am not a doctor, nor do I know anything about you, however this report has a

hint of CMT 2. What were the numbers in range?

Gretchen

[Guest guest]

Ming Vo,

Well no, actually the hint I refered to was the " normal " reading. This can be

characteristic of Type 2.

The range of the Right Median Nerve conduction velocity is 49 msc. or more.

The Right Ulmar Nerve conduction velocity is 49 or more msc.

The Right Peroneal Nerve conduction velocity is 41 msc. or more

The Right Sural nerve is 4.2 or less.

As for your questions:

1) The second most frequest type of CMT is X-linked.

2) Miami Institue for Human Geonomics is working on CMT 2 research, indentifying

new types, mutations. Once subtypes are indetified, testing of compounds can be

done, such as high thoroughput screening like what is being done for CMT 1A now.

Dr. Chan and his team, cell biologists from Cal Tech in Los Angeles are

also working on research for a treatment of Type 2, related to the mitochondria.

City of Hope in Los Angeles is not only doing testing for Type 2, but actively

engaged in Type 2 research, and a possible treatment.

3) Using the HTS (high thoroughput screening) like that which is being done on

CMT 1A, could be one method of finding treatment for Type 2. Dr. Shy mentioned

in 10 years, there should be treatment for types other than CMT 1A and also

X-linked CMT. " Following the completion of these projects, the CMTA will

aggressively work to pursue any potential treatments arising from these trials,

as well as foster new strategies for treating other forms of CMT including 1X,

and Types 2 and " . http://www.charcot-marie-tooth.org/STAR.php

In addition to US research, I'm sure other Type 2 research is ongoing worldwide.

Types of CMT known: http://neuromuscular.wustl.edu/time/hmsn.html

Genetic testing and research status of CMT types

http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/disease/charcot%20marie%20tooth?\

db=genetests & search_param=contains

Mutation Data Base of Inherited Perpherial Neuropathies

http://www.molgen.ua.ac.be/CMTMutations/Home/IPN.cfm

Nationall Human Geonome Research Institute

http://www.genome.gov/11009201

In the meantime, take good care of yourself - best nutrition, rest, sleep,

exercise to the extent you are able, live life to your fullest.

Gretchen

>

[Guest guest]

Gretchen,

Thanks so much for spending your time to help me.

I just have 1 more questions, could you please help me to answer it. My

question: Is there record for any CMT2 patient who has sleeping problem as well

as scoliosis, or these symptoms only appear in CMT4 patients.

Minh Vo

>

[Guest guest]

Ming Vo,

Sleeping problems, breathing, and scoliosis are found in a range of people with

CMT, they aren't 'type specific'. Meaning they can be found in CMT 1A, 2B X,

etc. Not everyone has them. Or maybe only one.

Gretchen