Re: DNA Blood Testing

[Guest guest]

I am confused then. Why on earth wouldn't my son's Dr. order the complete blood

test panel? Would it be a money thing?

In His Most Merciful Name,

Ziegler

DNA Blood testing

If only one blood test is ordered by your doctor, then only one panel will be

tested. If your doctor orders the complete blood test panel, you will be tested

for all * known * types of CMT. (I think there are about 40 now) What MD's go by

is dependent on family history and EMG/NCV reports.

[Guest guest]

,

I don't know why the neurologist would order only 1 panel. Perhaps this is

because of EMG/NCV scores, any family history/ancestry/pedigree observance of

the patient, maybe the MD doesn't know about the entire CMT panel, maybe it is a

money thing, maybe it is an insurance thing. Get a copy of your EMG/NCV results,

make sure you go over it carefully with the MD. Communicate. Ask him/her WHY

only 1 panel was ordered? Ask if he/she suspected CMT 1A (which affects 70% of

the people with CMT)

Gretchen

[Guest guest]

I know that he does not suspect CMT 1A. He thinks 's symptoms are too bad

too early for that. The thing is I could get the results, but not sure the

questions to ask. There is no history of CMT in my family. My husband is adopted

but does not have CMT. The weird thing is (if you want an interesting case) my

son has been positively diagnosed with Ectodermal Dysplasia. The odds that he

has another disorder on top of that are like being struck by lightening twice!

However, and this is what makes me question the diagnosis, his Ectodermal D,

caused him to have chronic ear infections for years, in fact he just had his 4th

set of tubes. He was given antibiotics for years, over and over, which are now

known to cause peripheral neuropathy. The thing is I can't get the neurologist

to consider this as another possibility.

I just want to know what it is...so i know if there is any chance for corrective

measures before it's too late. I just don't know where else to go. I get the

feeling this could go on for years since we have just had two blood tests done

in a year.

In His Most Merciful Name,

Ziegler

Re: DNA Blood Testing

,

I don't know why the neurologist would order only 1 panel. Perhaps this is

because of EMG/NCV scores, any family history/ancestry/pedigree observance of

the patient, maybe the MD doesn't know about the entire CMT panel, maybe it is a

money thing, maybe it is an insurance thing. Get a copy of your EMG/NCV results,

make sure you go over it carefully with the MD. Communicate. Ask him/her WHY

only 1 panel was ordered? Ask if he/she suspected CMT 1A (which affects 70% of

the people with CMT)

Gretchen

[Guest guest]

Gretchen

Ifound a copy of the nerve conduction test result. Or I guess that's what it is.

It looks like a EKG readout on one side (labeled 's nerves) and the other

side gives...Lulnar-ADM??? But I can't understand this thing at all. Just

numbers. Is this what I need to understand better?

In His Most Merciful Name,

Ziegler

[Guest guest]

,

Ask the doc about CIDP (Chronic Inflamatory Demylenating Neuropathy) The good

news is for that one there IS treatment!

Gretchen

>

> ,

>

> I don't know why the neurologist would order only 1 panel. Perhaps this is

because of EMG/NCV scores, any family history/ancestry/pedigree observance of

the patient, maybe the MD doesn't know about the entire CMT panel, maybe it is a

money thing, maybe it is an insurance thing. Get a copy of your EMG/NCV results,

make sure you go over it carefully with the MD. Communicate. Ask him/her WHY

only 1 panel was ordered? Ask if he/she suspected CMT 1A (which affects 70% of

the people with CMT)

>

> Gretchen

>

[Guest guest]

,

The doc who did the EMG/NCV has a written report (in pretty plain English) that

states limbs/body areas tested and what the range of numbers is. This is what

you want. If you want, I can dig out mine and post, it may take a bit of time,

but I'll be happy to show you.

Gretchen

[Guest guest]

I am almost positive that this is the exact term he used! He can tell this by

the nerve conduction test??? What type of treatment? You are SO much more help

than the DR!

In His Most Merciful Name,

Ziegler

Re: DNA Blood Testing

,

Ask the doc about CIDP (Chronic Inflamatory Demylenating Neuropathy) The good

news is for that one there IS treatment!

Gretchen

>

> ,

>

> I don't know why the neurologist would order only 1 panel. Perhaps this is

because of EMG/NCV scores, any family history/ancestry/pedigree observance of

the patient, maybe the MD doesn't know about the entire CMT panel, maybe it is a

money thing, maybe it is an insurance thing. Get a copy of your EMG/NCV results,

make sure you go over it carefully with the MD. Communicate. Ask him/her WHY

only 1 panel was ordered? Ask if he/she suspected CMT 1A (which affects 70% of

the people with CMT)

>

> Gretchen

>

[Guest guest]

Oh that would be great!!! I am going to try to scan and send u this thing I

have...stay tuned.

In His Most Merciful Name,

Ziegler

Re: DNA Blood Testing

,

The doc who did the EMG/NCV has a written report (in pretty plain English)

that states limbs/body areas tested and what the range of numbers is. This is

what you want. If you want, I can dig out mine and post, it may take a bit of

time, but I'll be happy to show you.

Gretchen

[Guest guest]

Hi again ,

CIDP is completely different from CMT. It is immune cells attacking the nerves.

It is an immune inflammatory disorder. Sometimes EMG/NCV's fail to show any

evidence of demyelination in CIDP. But usually the nerve conduction studies show

demyelination. These findings include:

a reduction in nerve conduction velocities;

the presence of conduction block or abnormal temporal dispersion in at least one

motor nerve;

prolonged distal latencies in at least two nerves;

absent F waves or prolonged minimum F wave latencies in at least two motor

nerves. (In some case EMG/NCV can be normal)

Treatment can be predisone,plasma exchange,IVig, Rituximab, Imuran. If treatment

for CIDP doesn't help, then most likely a diagnosis of some kind of CMT would be

made. A gentleman in my CMT Support Group has left us because he's going through

with treatment for CIDP now.

CIDP can come and go, with some like symptoms to CMT. I am wondering if the doc

ordered one of the five tests for CIDP? Anyway, here's some additional

information.

http://en.wikipedia.org/wiki/Chronic_inflammatory_demyelinating_polyneuropathy

Gretchen

[Guest guest]

You know I wonder if I am familiar with this term because a friend's mother has

this I think. They never determined where it came from, in other words she said

it may have actually a result of a virus she may have had over the years? She

had infusions which helped her tremendously. Maybe that is not what my doc said

about Gabe after all. I do remember him discussing the myelin sheath?

In His Most Merciful Name,

Ziegler

Re: DNA Blood Testing

Hi again ,

CIDP is completely different from CMT. It is immune cells attacking the

nerves. It is an immune inflammatory disorder. Sometimes EMG/NCV's fail to show

any evidence of demyelination in CIDP. But usually the nerve conduction studies

show demyelination. These findings include:

a reduction in nerve conduction velocities;

the presence of conduction block or abnormal temporal dispersion in at least

one motor nerve;

prolonged distal latencies in at least two nerves;

absent F waves or prolonged minimum F wave latencies in at least two motor

nerves. (In some case EMG/NCV can be normal)

Treatment can be predisone,plasma exchange,IVig, Rituximab, Imuran. If

treatment for CIDP doesn't help, then most likely a diagnosis of some kind of

CMT would be made. A gentleman in my CMT Support Group has left us because he's

going through with treatment for CIDP now.

CIDP can come and go, with some like symptoms to CMT. I am wondering if the

doc ordered one of the five tests for CIDP? Anyway, here's some additional

information.

http://en.wikipedia.org/wiki/Chronic_inflammatory_demyelinating_polyneuropathy

Gretchen

[Guest guest]

So in looking at this report I am trying to send you a copy of... this is his

" EMG " .... not the results of the nerve conduction. Hmmm. So what is a EMG?

In His Most Merciful Name,

Ziegler

Re: DNA Blood Testing

Hi again ,

CIDP is completely different from CMT. It is immune cells attacking the

nerves. It is an immune inflammatory disorder. Sometimes EMG/NCV's fail to show

any evidence of demyelination in CIDP. But usually the nerve conduction studies

show demyelination. These findings include:

a reduction in nerve conduction velocities;

the presence of conduction block or abnormal temporal dispersion in at least

one motor nerve;

prolonged distal latencies in at least two nerves;

absent F waves or prolonged minimum F wave latencies in at least two motor

nerves. (In some case EMG/NCV can be normal)

Treatment can be predisone,plasma exchange,IVig, Rituximab, Imuran. If

treatment for CIDP doesn't help, then most likely a diagnosis of some kind of

CMT would be made. A gentleman in my CMT Support Group has left us because he's

going through with treatment for CIDP now.

CIDP can come and go, with some like symptoms to CMT. I am wondering if the

doc ordered one of the five tests for CIDP? Anyway, here's some additional

information.

http://en.wikipedia.org/wiki/Chronic_inflammatory_demyelinating_polyneuropathy

Gretchen

[Guest guest]

,

An electromyogram (EMG) is done to:

Find diseases that damage muscle tissue, nerves, or the junctions between nerve

and muscle (neuromuscular junctions). These disorders may include a herniated

disc, amyotrophic lateral sclerosis (ALS), or myasthenia gravis (MG). Find the

cause of weakness, paralysis, or muscle twitching. Problems in a muscle, the

nerves supplying a muscle, the spinal cord, or the area of the brain that

controls a muscle can cause these symptoms. The EMG does not show brain or

spinal cord diseases.

Nerve conduction velocity studies((NCV) are done to:

Find damage to the peripheral nervous system, which includes all the nerves that

lead away from the brain and spinal cord and the smaller nerves that branch out

from those nerves(peripheral nerves). Nerve conduction studies are often used to

help find nerve disorders, such as carpal tunnel syndrome or Guillain-Barré

syndrome.

Gretchen