Catalog

Charcot-Marie-Tooth disease type 4B2

No MMS code

Link to WHO Definition

Charcot-Marie-Tooth disease type 4B2 – http://id.who.int/icd/entity/393759720

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.