NCS or Biopsy
The hallmark of CMT is a very even loss of myelin, the insulation surrounding nerves, as opposed to the patchy loss seen in some autoimmune neuropathies.
Electrodiagnostic testing can identify this functionally, by noting a uniform slowing of nerve conduction velocity
, while nerve biopsy
can confirm it anatomically. Additionally, genetic tests can definitively confirm a majority of cases.