Charcot-Marie-Tooth disease type 4G

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.

Signs and symptoms

• Distal upper limb muscle weakness
• Areflexia
• Distal lower limb muscle weakness
• Distal sensory impairment
• Distal lower limb amyotrophy
• Pes cavus
• Hyporeflexia
• Decreased number of large peripheral myelinated nerve fibers
• Decreased motor nerve conduction velocity
• Gait disturbance

Also known as: CMT4G; Charcot-Marie-Tooth neuropathy type 4G; HMSNR; autosomal recessive Charcot-Marie-Tooth disease type 4G; hereditary motor and sensory neuropathy Russe type