Charcot-Marie-Tooth disease axonal type 2U

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.

Signs and symptoms

• Peripheral axonal neuropathy
• Steppage gait
• Gait disturbance
• Distal amyotrophy
• Distal muscle weakness
• Hand muscle atrophy
• Distal sensory impairment
• Hand muscle weakness
• Areflexia
• Foot dorsiflexor weakness

Also known as: CMT2U; Charcot-Marie-Tooth neuropathy type 2U; autosomal dominant Charcot-Marie-Tooth disease type 2U; autosomal dominant axonal Charcot-Marie-Tooth disease type 2U