Charcot-Marie-Tooth disease type 2Y

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.

Signs and symptoms

• Decreased motor nerve conduction velocity
• Impaired distal tactile sensation
• Impaired distal vibration sensation
• Absent Achilles reflex
• Pes cavus
• Distal upper limb muscle weakness
• Distal lower limb muscle weakness
• Weakness of the intrinsic hand muscles
• Hammertoe
• Proximal lower limb muscle weakness

Also known as: CMT2 due to VCP mutation; CMT2Y; Charcot-Marie-Tooth neuropathy type 2Y; autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; autosomal dominant axonal Charcot-Marie-Tooth type 2Y