/Charcot-Marie-Tooth disease type 4B3

Charcot-Marie-Tooth disease type 4B3

Rare Disease

MONDO:0014117

Also Known As

CMT4B3Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1Charcot-Marie-Tooth disease with focally folded myelinSBF1 Charcot-Marie-Tooth disease type 4Charcot-Marie-Tooth disease, type 4B3

Definition

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).