Charcot-Marie-Tooth disease recessive intermediate B

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.

Also known as: CMTRIB, Charcot-Marie-Tooth disease caused by mutation in KARS, Charcot-Marie-Tooth disease recessive intermediate type B, Charcot-Marie-Tooth disease, recessive Intermediate type B, KARS Charcot-Marie-Tooth disease, RI-CMT type B, RI-CMTB, autosomal recessive intermediate Charcot-Marie-Tooth disease type B

9 clinical trials for this condition and its sub-types.