Charcot-Marie-Tooth disease type 1E

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).

Signs and symptoms

• Decreased motor nerve conduction velocity
• Gait disturbance
• Distal amyotrophy
• Distal muscle weakness
• Limb muscle weakness
• Thenar muscle atrophy
• Sensorineural hearing impairment
• Ankle weakness
• Foot dorsiflexor weakness
• Distal sensory impairment

Also known as: CMT1E; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease demyelinating type 1E; Charcot-Marie-Tooth disease-deafness; autosomal dominant Charcot-Marie-Tooth neuropathy and deafness