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

Abstract

The article presents the results of ultrasound studies inpatients with hereditary motor and sensory neuropathy, orCharcot-Marie-Tooth disease (CMT). Based on standardelectroneuromiography, the patients were divided into two groupswith demyelinating (n=25) or axonal (n=31) process, CMT1 andCMT2 respectively. Demyelinating forms were characterized byspecific prolonged sonographic changes with uniform thickeningof all studied nerves and abnormalities of their cable structure.In axonal forms the character of structural changes was not assevere and specific as in CMT1, but symmetrical prolongationof the nerve structure was seen in this type of CMT as well. Thedescription of genetically confirmed familial cases of HMSN type1X in male relatives is presented, which demonstrates modernpotential of unltrasound studies in diagnosing the involvementof peripheral nerves in patients from a heterogeneous group ofhereditary neuropahies.

Keywords

• sonography of peripheral nerves
• hereditary motor and sensory neuropathy
• demyelinating process
• genetics