Charcot-Marie-Tooth disease type 4D

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.

Signs and symptoms

• Distal muscle weakness
• Motor delay
• Distal sensory impairment
• Proximal muscle weakness
• Impaired distal proprioception
• Pes cavus
• Impaired distal tactile sensation
• Areflexia
• Sensorineural hearing impairment
• Decreased nerve conduction velocity

Also known as: CMT4D; Charcot-Marie-Tooth neuropathy type 4D; HMSN Lom type; HMSN-Lom; HMSN4D