Preferred Label : Charcot-Marie-Tooth disease type 4B2;
ICD-11 definition : Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating
CMT peripheral sensorimotor polyneuropathy with childhood-onset of muscle weakness,
sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings
and a severe disease course.In addition to the severe neuropathy, patients from some
CMT4B2 families also develop early-onset glaucoma.;
Origin ID : 393759720;
Automatic exact mappings (from CISMeF team)
Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating
CMT peripheral sensorimotor polyneuropathy with childhood-onset of muscle weakness,
sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings
and a severe disease course.In addition to the severe neuropathy, patients from some
CMT4B2 families also develop early-onset glaucoma.
