Charcot-Marie-Tooth disease type 2J

A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

Signs and symptoms

• Recurrent coughing spasms
• Axonal degeneration/regeneration
• Hyporeflexia
• Dysphagia
• Steppage gait
• Pes cavus
• Distal amyotrophy
• Slow pupillary light response
• Areflexia
• Distal muscle weakness

Also known as: CMT2J; Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities; Charcot-Marie-Tooth neuropathy type 2J