[The clinical and pathologic features of Charcot-Marie-Tooth disease].

OBJECTIVE

To study the clinical and pathological features of Charcot-Marie-Tooth disease (CMT).

METHODS

The general clinical data, the changes of neuroelectrophysiology and the pathological features of neural and muscular biopsy of 20 CMT patients were comprehensively analyzed.

RESULTS

The clinical manifestations in the two types of CMT were nearly the same, but the changes of neuroelectrophysiology and the pathological characteristics of the neural and muscular biopsy in the two types were obviously different. 16 cases of CMT type 1 were characterized by decreased sensory nerve conduction velocity (SNCV < 30 m/s) and are associated with demyelinating hypertrophic neuropathy. 4 cases of CMT tylpe 2 were characterized by normal SNCV and associated with axonopathy.

CONCLUSION

Neuroelectrophysiology and neural and muscular biopsy are important for the diagnosis of CMT.