Charcot-Marie-Tooth disease type 4B2
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.
MONDO:0018995
Charcot-Marie-Tooth disease type 4
is_a
CMT 4B2
related
CMT4B2
exact
Charcot Marie Tooth disease type 4B2
related
Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2
exact
Charcot-Marie-Tooth disease type 4B2
exact
Charcot-Marie-Tooth disease, type 4B2
related
SBF2 Charcot-Marie-Tooth disease type 4
exact