/Charcot-Marie-Tooth disease type 4B1

Charcot-Marie-Tooth disease type 4B1

Rare Disease

MONDO:0011066

Also Known As

CMT4B1Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2Charcot-Marie-Tooth disease type 4B1Charcot-Marie-Tooth neuropathy type 4B1MTMR2 Charcot-Marie-Tooth disease type 4autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1CMT 4BCMT 4B1Charcot Marie Tooth disease type 4B1Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1Charcot-Marie-Tooth disease, type 4BCharcot-Marie-Tooth disease, type 4B1Charcot-Marie-Tooth neuropathy, type 4B1

Definition

Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).