Charcot-Marie-Tooth disease axonal type 2F

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).

Signs and symptoms

• Distal muscle weakness
• Upper limb amyotrophy
• Distal lower limb amyotrophy
• Pes cavus
• Areflexia of lower limbs
• Hyporeflexia of upper limbs
• Steppage gait
• Decreased motor nerve conduction velocity
• Ulnar claw
• Foot dorsiflexor weakness

Also known as: CMT2F; Charcot-Marie-Tooth neuronal type 2F; Charcot-Marie-Tooth neuropathy type 2F; autosomal dominant Charcot-Marie-Tooth disease type 2F