giant axonal neuropathy 2

An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in

An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.

Signs and symptoms

• Hyporeflexia
• EMG: chronic denervation signs
• Peripheral axonal neuropathy
• Steppage gait
• Decreased motor nerve conduction velocity
• Pes cavus
• Impaired distal tactile sensation
• Distal amyotrophy
• Onion bulb formation
• Areflexia