Charcot-Marie-Tooth disease axonal type 2Q

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.

Signs and symptoms

• Skeletal muscle atrophy
• Hyporeflexia
• Distal lower limb muscle weakness
• Pes cavus
• Somatic sensory dysfunction
• Impaired distal vibration sensation
• Gait disturbance

Also known as: CMT2Q; Charcot-Marie-Tooth neuropathy type 2Q; autosomal dominant Charcot-Marie-Tooth disease type 2Q; autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q