Společnost C-M-T

Charcot-Marie-Tooth (CMT) is a clinically and genetically heterogeneous group of diseases characterized by progressive muscle weakness, atrophies, and sensory loss affecting the distal extremities. Patients are categorized into demyelinating (CMT1) and axonal (CMT2) forms depending on motor nerve conduction velocities (MNCVs). MNCV of the median nerve are below 38m=s in the group of CMT1. In the CMT2 group, they are above 38m=s (Harding and Thomas, 1980). Some patients show values between these two clusters and are classified as intermediate (Nicholson and Nash, 1993).

Document: Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease (.pdf; 115 Kb).