Charcot-Marie-Tooth disease axonal type 2H

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.

Signs and symptoms

• Distal muscle weakness
• Steppage gait
• Pes cavus
• Distal amyotrophy
• Axonal regeneration
• Decreased number of peripheral myelinated nerve fibers
• Hyperactive patellar reflex
• Upper limb hyperreflexia
• Foot dorsiflexor weakness
• Distal sensory impairment

Also known as: AR-CMT2C; Autosomal recessive axonal CMT4C2; Axonal Charcot-Marie-Tooth disease with pyramidal involvement; CMT2H; Charcot-Marie-Tooth disease type 2H