EMG/NCV testing should be able to tell if you have CMT 1 or CMT2. That is if you might have those types of CMT. However, it will not give you the sub type and there are many sub types both under CMT 1 and CMT 2. That is where DNA blood testing would tell you; the sub type. It is expensive.

As I posted, family history would also be of help along with an expert neurologist who knows CMT.

Hope you find an answer.

hello .my 1st time here and thank you in advance for any replys .
I was diagnosed 3 years ago with B12 deficiency levels 164. I started on injections every 3 months . Then I was told I had low Vid D so started on 2 tablets every day,
I still had symptoms although they didnt go a way I could cope. however for about the last 6 months my symptoms have only gotten worse. I think I have every symptom connected to B12 apart from weight loss. im actually over weight.
I have had a bit of a battle with my doctor trying to get more injections. On my insistance the doctor did another B12 test along with some others .
B12 = 392 norm being 197-1126
vit D 41.1 nmo1/l norm being 48-145
Serum folate 5.8 ng/ml norm being 2.2-10.6
TSH level low= 0.04 norm being 0.4-4.0
serum creatine kinase level =39 u/l norm 25-200

I still thought my B12 levels were very low considering I had been having injections for 3 years and vid D still low after taking tablets for same length of time . and now my thyroid levels are low and to be re-tested (18th June)
My doctor spoke to a haemotologist and asked if I could have more injections. He wasnt convinced they would help ( So what will ) I just feel like crying im in so much pain.
The doctor has decided to give me an injection every week for 5 weeks and then re-test my B12 levels again a month later and then decide if im to continue every 3 months or 2 months. I think its about time I saw a neurologist and determine exactly how much damage I have as I have got another symptom I have searched on the internet and it seems I have whats called thumb in palm deformity. this is normally associated with celebral palsy which I dont have but can be coursed due to damage to the spinal colume. Im wondering could this new thing be due to the B12 deficiency.I think some times Im going crazy and its all in my mind. :o( Help.

more testing
 

Hi Kitt-

Finally got back with the neuro at my HMO. The primary care Doc refussed to answer my questions about the nerve testing -said she was not knowledable enough to answer (then why the heck did she just not send me to neuro to begin with!). The neuro reviewed my nerve testing last week with me and said it was quite confusing. I had BOTH types of damage-probably going to laugh-but I cant remember exactly what that meant now that the appt was several days ago. Something like slow AND no reaction (?). The neuro did agree for the genetic testing which I am grateful for. I want to know if CMT is what's causing the numbness and pain. He did say that the lips going numb is really not a classic sign of CMT. And that is one symptom I really hate. Bothers me all day. I am going back to the HMO to get a actually copy of the nerve test-maybe someone on here can explain it all better!

Thanks for all the good info

:)

Labina do a search here on methycobalamin b12 and vitamin D3. you can buy and take these vitamins orally yourself. orally taking vitamin methylcobalamin b12 has been shown to be effective in raising your B12 levels. I would take 5000 mcg a day in your case. there are places on line to buy it. Vitamin D3 has also been shown to be more effective than the vitamin D2 that doctors are prescribing.

Take the 5mg oral Methylcobalamin on an empty stomach daily and you should see a marked improvement.

The injections are typically cyano form, and some people cannot convert it to active methyl form so by taking the methyl in the first place you bypass that problem.

You can buy methylcobalamin online for very low prices. It is not expensive. I use Puritan's version, and it works out to $4.00 a month.
But other places have it, like iherb.com, swanson's, and vitacost to name a few. Most local stores still don't carry it, but that is changing as well. Expect to pay more for it in a store however.

This is the B12 thread: Lots of medical information on this link:
http://neurotalk.psychcentral.com/thread85103.html

In the US the cut off for normal now is 400pg/ml
The lab ranges still reflect very low numbers however, and when doctors are not educated on the new treatment protocols, then the patients really suffer even when tested.

This is a list of how to convert from SI (international units) to
conventional US units
http://www.unc.edu/~rowlett/units/sc...ical_data.html

If you cannot convert cyanocobalamin in injections, it will still float around in the blood and show up on tests. Even when inactive. It will be unable to work in the tissues however.

MMA test and homocysteine test will show if B12 is actually working. You might want to have the MMA test at least to see.
Otherwise the only other test for genetic failure of methylation is a DNA test. Called the MTHFR test.

With what is known today about methylation and B12, no doctor should be cavalierly depending on injections. Even at once a month they can be failing you.

You can have both large and small fiber neuropathies at the same time. I do. The small fiber causes the sensory damage and the large fiber causes the muscular atrophy. I have CMT type 2, where the axons die rather than the myelin being affected. From what I know, almost anything can be a symptom of CMT, though some may be rare, the disease affects more than meets the eye.

My son, who also has it, developed shingles along a nerve from his eye to his ear when he was about 10. The doctors then said they had never seen it in children. He now suffers from post herpetic neuralgia periodically and his feet are curling up and in, he is only 27.

I have periodic outbreaks of virulent cold sores which are very painful, again along a nerve near my lips, and which take forever to heal. This last outbreak was accompanied by a body wide sunburned sensation which may or may not be related. The cold sores seem stress related, and I have an odd buzzing feeling along my lips when I have them. The neurontin dampens this as well,it used to be much worse.

I believe all of these oddities can be attributed to defects in our nervous systems, even if the doctors do not see an obvious link. Your lip issues sound related to me and hardly rule out CMT.

Hi judiesva,

Genetic testing it seems would be in order to either rule out CMT or rule it in. However, with so many types of CMT it might be ruled out if they do not have a test for that particular type. So it still would not mean that you do not have CMT.

Thanks for letting us know what you find out.

thank you for the replies
im on hydroxycobalamin injections as I am unable to absorb b12 orally . I will wait until I have my blood retested after these 5 additional injections and see what the results are and take it from there.
My mam has b12 deficiency and she also can not absorb orally and other members of the family showing signs. (yet to be tested)
my self my sister. and my son are vid D deficent, we are on vid D3 treatment.
my other sister and my son have MS. my son recently had his B12 tested with a result of 270 his neurologist says this is normal and left it at that. hes to have the new MS tablet soon so I think thats why his neurologist isnt bothering with B12 injections.crazy as surely then can only help his MS symptoms .grrr.
Its so cheap to treat and can prevent so many other things that could cost so much money to treat and yet doctors are so reluctant to give injections. does any one have any idea why.? rediculous .....

In all probability, you can absorb tiny amounts of B12 when taken orally on an empty stomach. and your son's B12 level, if he is smptomatic, is not normal. It is cheap, and I would think, worth a try; for both of you.

This link illustrates a test done on oral vs injectable in both intrinsic factor intact people and those lacking intrinsic factor (pernicious anemia). It used to be thought you had to have IF in order to use oral, but that is not the case:

http://www.ncbi.nlm.nih.gov/pmc/arti...able/T1/#TF1-4

This is the full article:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2532799/
The full paper mentions a down side to using hydroxocobalamin chronically, as potentially allergenic. That is something I have not seen before.

This link illustrates that in 1000micrograms orally used
approx 13 micrograms were absorbed, and in the patients lacking intrinsic factor, approx 12 micrograms were absorbed.
Essentially no difference.
Injection wise out of 1000 micrograms injected, 150 micrograms were measured. Far from the whole injection amount. I think doctors assume 1000 mcg are used by the body when injected, and that is not accurate.

The B12 in an oral dose is passively absorbed in the small intestine. The only way you cannot absorb it is if you have had all your small intestine removed...and that is certainly not common.

So now the doctors who treat based on this NEW evidence (2008) often allow oral to be used by patients. The only caveat I have is that you should do this on an empty stomach for best results. Presence of food reduces this process of absorption and some kinds of fiber will completely block passive absorption.