Charcot-Marie-Tooth disease type 4B1
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).
MONDO:0018995
Charcot-Marie-Tooth disease type 4
is_a
CMT 4B
related
CMT 4B1
related
CMT4B1
exact
Charcot Marie Tooth disease type 4B1
related
Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2
exact
Charcot-Marie-Tooth disease type 4B1
exact
Charcot-Marie-Tooth disease, type 4B1
related
MTMR2 Charcot-Marie-Tooth disease type 4
exact
SPAC19A8.03