Welcome Lesley

[Guest guest]

Welcome Lesley and thanks for introducing yourself and . I hope

the doctors can zero in on his diagnosis soon. I have never heard of

persons with CMT having a high roof in their mouth. Believe me, since

I was diagnosed with CMT as a child, I would have remembered this.

CMT is appropriately diagnosed by watching the patient's walking,

taking a thorough family history,followed by manual tests such as

checking reflexes and sensations, then by an EMG/NCV test (and

perhaps in some cases - (like mine) a muscle biopsy, a spinal tap,

maybe now even an MRI. (yes, some of these are what I'd

call " invasive " and hurt!) There are about 44 'types' of CMT now,

with about 1/2 that can be detected by DNA blood tests.

There is a disease that can mimic CMT called Frederich's Ataxia that

you may want to research too. FA is also a type of peripheral

neuropathy, like CMT.

I don't understand why you are going to a neurosurgeon at this point,

if hasn't had those tests I mentioned above, you're best bet

would be to get those done. Have you considered taking to an MDA

clinic? Go to http://www.mdausa.org type in your zip code to find

the closest one. MDA helps kids/adults with CMT, but CMT is not

a 'type' of MD. MDA helps kids/adults who have one of the 40+

neuromuscular disorders.

Again, welcome to . I hope you find this group helpful.

~ Gretchen(Founder/Moderator of )