Charcot-Marie-Tooth disease recessive intermediate B

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.

Signs and symptoms

• Decreased compound muscle action potential amplitude
• Global developmental delay
• Vestibular schwannoma
• Self-injurious behavior
• Hyporeflexia
• Steppage gait
• Pes cavus
• Areflexia
• Foot dorsiflexor weakness
• Distal sensory impairment

Also known as: CMTRIB; Charcot-Marie-Tooth neuropathy recessive intermediate B; RI-CMTB; autosomal recessive intermediate Charcot-Marie-Tooth disease type B