Charcot-Marie-Tooth disease axonal type 2N

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.

Signs and symptoms

• Distal muscle weakness
• Distal sensory impairment
• Lower limb muscle weakness
• Absent Achilles reflex
• Distal lower limb amyotrophy
• Skeletal muscle atrophy
• Peripheral axonal neuropathy
• Decreased motor nerve conduction velocity
• Pes cavus
• Areflexia

Also known as: CMT2N; Charcot-Marie-Tooth neuropathy axonal type 2N; autosomal dominant Charcot-Marie-Tooth disease type 2N; autosomal dominant axonal Charcot-Marie-Tooth disease type 2N