Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.

Also known as: CMT4C, Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2, Charcot-Marie-Tooth disease type 4C, SH3TC2 Charcot-Marie-Tooth disease type 4, CMT 4C, Charcot Marie Tooth disease type 4C, Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C, Charcot-Marie-Tooth disease, type 4C

9 clinical trials for this condition and its sub-types, 2 tagged with Charcot-Marie-Tooth disease type 4C itself.