/Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4C

Rare Disease

MONDO:0011113

Also Known As

CMT4CCharcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2Charcot-Marie-Tooth disease type 4CCharcot-Marie-Tooth neuropathy type 4CSH3TC2 Charcot-Marie-Tooth disease type 4autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4CCMT 4CCharcot Marie Tooth disease type 4CCharcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4CCharcot-Marie-Tooth disease, type 4CCharcot-Marie-Tooth neuropathy, type 4C

Definition

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.