GTR Home > Conditions/Phenotypes > Giant axonal neuropathy

Summary

Excerpted from the GeneReview: Giant Axonal Neuropathy
Giant axonal neuropathy (GAN) is an early-onset fatal neurodegenerative disorder. GAN starts as severe peripheral motor and sensory neuropathy during infancy and evolves into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). Most individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade.

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: GAN1, KLHL16, GAN
    Summary: gigaxonin

Clinical features

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