/Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B2

Rare Disease

MONDO:0011475

Also Known As

CMT4B2Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2Charcot-Marie-Tooth disease type 4B2Charcot-Marie-Tooth neuropathy type 4B2SBF2 Charcot-Marie-Tooth disease type 4autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2CMT 4B2Charcot Marie Tooth disease type 4B2Charcot-Marie-Tooth disease, type 4B2Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucomaCharcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2Charcot-Marie-Tooth neuropathy, type 4B2Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma

Definition

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.