Charcot-Marie-Tooth disease type 1A

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).

Signs and symptoms

• Steppage gait
• Hearing impairment
• Decreased motor nerve conduction velocity
• Ulnar claw
• Distal amyotrophy
• Distal muscle weakness
• Limb muscle weakness
• Split hand
• Foot dorsiflexor weakness
• Distal sensory impairment

Also known as: CMT1A; Charcot-Marie-Tooth neuropathy type 1A; HMSN1A; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; hereditary motor and sensory neuropathy 1A