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.
MONDO:0018995
Charcot-Marie-Tooth disease type 4
is_a
CMT 4C
related
CMT4C
exact
Charcot Marie Tooth disease type 4C
related
Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2
exact
Charcot-Marie-Tooth disease type 4C
exact
Charcot-Marie-Tooth disease, type 4C
related
SH3TC2 Charcot-Marie-Tooth disease type 4
exact