Charcot-Marie-Tooth disease recessive intermediate B

Rare Disease

MONDO:0013338

Also Known As

CMTRIBCharcot-Marie-Tooth disease caused by mutation in KARSCharcot-Marie-Tooth disease recessive intermediate type BCharcot-Marie-Tooth disease, recessive Intermediate type BCharcot-Marie-Tooth neuropathy recessive intermediate BKARS Charcot-Marie-Tooth diseaseRI-CMT type BRI-CMTBautosomal recessive intermediate Charcot-Marie-Tooth disease type BCharcot-Marie-Tooth disease, recessive intermediate BCharcot-Marie-Tooth disease, recessive intermediate, BCharcot-Marie-Tooth neuropathy, recessive Intermediate B

Definition

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.