7 doctors weighed in:
Can charcot marie tooth disease be diagnosed by having all criteria but normal nerve conduction studies? 
7 doctors weighed in

Dr. Michele Arnold
Physical & Rehabilitation Medicine
3 doctors agree
In brief: Subtypes
There are many subtypes of charcot-marie tooth disease, which appear differently on emg/nerve conduction studies.
It would be unlikely to have CMT with completely normal studies. Genetic testing for CMT would give you a definative diagnosis and identify the subtype. A nerve biopsy is an alternate method of diagnosis, but has potential risk.

In brief: Subtypes
There are many subtypes of charcot-marie tooth disease, which appear differently on emg/nerve conduction studies.
It would be unlikely to have CMT with completely normal studies. Genetic testing for CMT would give you a definative diagnosis and identify the subtype. A nerve biopsy is an alternate method of diagnosis, but has potential risk.
Dr. Michele Arnold
Dr. Michele Arnold
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1 comment
Dr. Eric Kelts
Agreed. It would be very unusual to have CMT without some abnormalities seen on a well-done nerve conduction study.
Dr. Julian Bragg
Neurology
2 doctors agree
In brief: Unusual
It would be very unusual for charcot marie tooth to look completely normal on nerve conduction studies.
I would want some objective confirmatory evidence (e.g. Nerve biopsy, genetic testing) before being comfortable saying that CMT is responsible and abandoning the search for other possible causes.

In brief: Unusual
It would be very unusual for charcot marie tooth to look completely normal on nerve conduction studies.
I would want some objective confirmatory evidence (e.g. Nerve biopsy, genetic testing) before being comfortable saying that CMT is responsible and abandoning the search for other possible causes.
Dr. Julian Bragg
Dr. Julian Bragg
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Dr. JUDY WASHINGTON
Family Medicine
2 doctors agree
In brief: Need further w/u
If all the diagnostic work-up in inconclusive or genetic testing comes back negative, a neurologist may perform a nerve biopsy to confirm the diagnosis.
This is a very good overview. http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm#173513092.

In brief: Need further w/u
If all the diagnostic work-up in inconclusive or genetic testing comes back negative, a neurologist may perform a nerve biopsy to confirm the diagnosis.
This is a very good overview. http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm#173513092.
Dr. JUDY WASHINGTON
Dr. JUDY WASHINGTON
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Dr. Susan Uhrich
Psychiatry
1 doctor agrees
In brief: Not sure what you
Mean by all criteria, but electromyelogram and nerve biopsy can also help with diagnosis.

In brief: Not sure what you
Mean by all criteria, but electromyelogram and nerve biopsy can also help with diagnosis.
Dr. Susan Uhrich
Dr. Susan Uhrich
Thank
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