Charcot-Marie-Tooth disease type 2KK

A Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that has_material_basis_in homozygous mutation in the ARHGAP19

A Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that has_material_basis_in homozygous mutation in the ARHGAP19 gene on chromosome 10q24.

Signs and symptoms

• Peripheral axonal neuropathy
• Decreased motor nerve conduction velocity
• Syringomyelia
• Muscle spasm
• Distal muscle weakness
• Fatty replacement of skeletal muscle
• Calf muscle pseudohypertrophy
• Motor axonal neuropathy
• Foot dorsiflexor weakness
• Mixed demyelinating and axonal polyneuropathy