Clinical-sonographic and neurophysiological comparisons in hereditary motor and sensory neuropathy

The article presents the results of ultrasound studies in patients with hereditary motor and sensory neuropathy, or Charcot-Marie-Tooth disease (CMT). Based on standard electroneuromiography, the patients were divided into two groups with demyelinating (n=25) or axonal (n=31) process, CMT1 and CMT2 respectively. Demyelinating forms were characterized by specific prolonged sonographic changes with uniform thickening of all studied nerves and abnormalities of their cable structure. In axonal forms the character of structural changes was not as severe and specific as in CMT1, but symmetrical prolongation of the nerve structure was seen in this type of CMT as well. The description of genetically confirmed familial cases of HMSN type 1X in male relatives is presented, which demonstrates modern potential of unltrasound studies in diagnosing the involvement of peripheral nerves in patients from a heterogeneous group of hereditary neuropahies.