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Dr. Andrew Rynne

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Exp 50 years

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What are tests to be carried out to diagnose charcots marie disease?

Hi my name is samantha i actually have quite a few question considering my health has went down hill pretty fast in the last 5 yrs but ill start with this one. My dad has charcots maries desiese along with a few others on his inermediete side but they are all deciesed i was told i couldnt be tested with out documentation in which i cannot retrieve. I have checked into this an quite frankly im worried because i favor alot of symptoms so how do i get tested for this thanks
Mon, 16 May 2016
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Orthopaedic Surgeon 's  Response
Hi there
Charcot Marie Tooth(CMT) is also called Hereditary Motor and sensory Neuropathy. there are 2 types. type I is the most common and the best way of testing for this disease is to do a nerve biopsy. we usually take a segment of one of the expendable nerves(one you can live without) commonly the sural nerve( taken from your leg)and sent to the laboratory to check for CMT. However this test is only conducted for patients with symptoms suggestive of CMT. If no symptoms this test can't be used for screening purpose.
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