giant axonal neuropathy 1

An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of hom

An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23.

Signs and symptoms

• Strabismus
• Motor delay
• Photophobia
• Macrocephaly
• Lateral ventricle dilatation
• Vomiting
• Areflexia
• Facial palsy
• Steppage gait
• Distal amyotrophy