Re: What to expect with 1st neuro appt

[Guest guest]

They will do a bunch of strength tests and measure your strength in various

parts of your body. they will also check for sensory loss by using a safety pin

and seeing where it feels sharper and check to see if you can feel hot and cold.

Nothing painful at all! They will also check your reflexes and observe your

walking.

As far as the EMG, it is little needles that they put into the muscles and

nerves to check the conductivity of the nerves. The more the person doing it

involves you in the test, the less annoying it is. Feel free to ask a lot of

questions and hopefully they will engage you in conversation.

Have your doctor check into doing the DNA blood test. The fastest and least

invasive way to find out if you have any of the known genetic factors of CMT.

Good luck!

Jackie

[Guest guest]

Hello Canaan,

This might give you an idea of what to expect at your first visit.

This is from " How Does The Doctor Diagnose Charcot-Marie-Tooth

Disease? " http://www.geocities.com/dgosling_rn/diagtxt.html

When you visit your General Practitioner (PCP) with your medical

complaints related to CMT, usually, you will be referred to a

Neurologist(nerve doctor). The common complaints are numbness, pins &

needles (in a stocking and glove pattern), frequent tripping, ankle

sprains, and loss of balance.

The Neurologist will do a complete medical history paying particular

attention to your family history, if it is available. Family members,

who have similar symptoms to yours, may be asked to come in to see

the Neurologist as well.

Then, you will be examined : the Neurologist will observe: how you

walk , whether you have high arches and other foot or hand

deformities, whether your hands and/or legs are thin compared to the

rest of your body .

Your skin will be pricked very lightly with a pin or other sharp

object, up and down your legs and arms to determine if you feel the

touch as sharp, dull, or not at all.

A piece of cotton, or kleenex may be used in the same way as the pin,

to find out if you feel soft touch.

A tuning fork, that is vibrating, will be used on specific bony

prominences (your elbows, wrists, hips, the outside of your knees,

ankles, fingers & toes). You will be asked if you feel the vibration

as well as when the vibration starts and also when it stops.

Your reflexes will be tested : your feet (Plantar or Babinski)will be

tested with a dull object that is run from your heels, up the middle

of the soles of your feet and across the balls of your feet quickly;

your ankles (Achilles),your knees (Patellar), your wrists

(Brachioradialis), and your elbows (Biceps) are tested with a " reflex

hammer " ; and your abdomen (Abdominal))is tested by running an object

quickly and lightly across the skin of your abdomen. These tests are

done to find out if your reflexes are normal . The Plantar or

Babinski reflex causes your toes to automatically curl if it is

normal. It is only abnormal, when the brain or spinal cord are

involved, so the results of testing this reflex are important in the

diagnosis of CMT to help rule out diseases in the brain.

In CMT Type I : the ankle, knee, wrist, elbow reflexes are often

absent.; in CMT type II the reflexes are sometimes slow, but usually

not absent .

You will have your toes and fingers moved up and down by the doctor,

while your eyes are closed, to find out if you know which direction

they are being moved This tests for your ability to know where your

body parts are, without looking at them. (Proprioception)

Another test of your sense of where your body is in space, is

standing with your feet right together and eyes closed, if you

automatically sway or fall more than you do with your eyes open, then

Romberg's sign is positive, which means you have difficulty knowing

where parts of your body are and that you are having problems with

balance.

Once the physical examination is complete, the doctor often will ask

you to have an EMG(electromyography)done . There are two parts to

this test:

The first part tests your different nerves for their ability to carry

messages to the muscles,and the speed (NCV-nerve conduction velocity)

at which the messages are carried . This test uses pads (electrodes)

(like a heart ECG) , attached at specific points along the muscle, a

very small electric shock is applied to measure the speed at which

the shock travels to the muscle, causing the muscle to contract. This

test is done on both motor nerves (MNCV)and sensory nerves (SNCV) In

CMT Type I nerve conduction speed is slowed. In CMT Type II the nerve

conduction speed is often normal or only mildly slowed. If you have a

muscle disease, the nerve conduction speed remains normal.

The second part, tests the ability of your muscles to respond to

electrical impulses supplied by the nerves. This is the uncomfortable

part. Very thin needles (like those used for acupuncture) are

inserted into each muscle, and the activity of the muscle is recorded

on an oscilloscope (like a TV screen). The muscle activity produces a

wave form, which shows normal and abnormal muscle activity. The

results of this will show the condition of your muscles, whether you

have a muscle disease or a nerve disease, and the areas of your body

that are involved. This part of the test also helps the Neurologist

to rule-out diseases of the muscles, brain or spinal cord and to

diagnose CMT.

After the EMG is done, you may be asked to have Blood tests and Urine

tests, especially if there is no family history. These tests are

vital to the diagnosis, because they will eliminate other treatable

causes of your problem. For example: diabetes, vitamin B12

deficiency, heavy metal poisoning (eg.lead), nutritional deficiencies

and alcoholism etc. There are many disease which mimic CMT, which

always need to be ruled out.

A Muscle and Nerve biopsy, is the next thing the doctor may want

done. A small piece of muscle and diseased nerve is removed and then

examined under a microscope, and can lead to a more definite

diagnosis. Some CMTers experience slow healing ability and this

should be taken into consideration before a biopsy is done. The area

where the biopsy has been done, may take a long time to heal, and may

be quite painful. Discussing this with your doctor prior to the test

is important!

If the doctor has found an indication of a demyelinating disease on

your EMG (the covering of the nerve:Myelin Sheath) is not intact,

(imagine an electric cord with the plastic cover having nicks in it),

or there is a suspicion that you may have Pressure Palsies, or

evidence that the disease was transmitted in a genetic X-Linked

pattern by family history, you may be asked to have DNA testing done.

The DNA testing which is commercially available is limited to

variants of CMT Type I and HNPP (Hereditary Neuropathy with Liability

to Pressure Palsies) and X-linked CMT. There are several DNA Blood

tests in the experimental research stages for CMT Type II which

should be available to all of us within the next few years.

Therefore, DNA testing can be used to either diagnose specific types

of CMT, or to rule those specific types out, at this time .

Once the doctor has put all of this information together, he can then

diagnose CMT, because of the known characteristics of the disease.

Depending on the severity of your symptoms and family history, often

the physician can tell you if you have CMT before completing all of

the tests.

Make sure you ask questions of the doctor, and find out why certain

tests are necessary, get all of your questions answered...it is your

body!

Canaan, it seems that the muscle-nerve biopsy is not done as

frequently as it was, probably due to the advancement of genetic

tests and the EMG. I know the waiting and wondering is hard - and

nervewracking! Try not to let the anxiety rule your life at this time

while waiting for the appointment and distract yourself with

something fun and happy. Living with CMT is something I have done

since I was a child. If in fact you do have CMT, you will accept it,

adjust, and learn new skills to manage it.

Gretchen

[Guest guest]

Gretchen,

WOW thank you,that was.. enlightening..

Thank you so much.

Canaan J. Engelhardt

[Guest guest]

Jackie, Thank you!

Canaan J. Engelhardt