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Diseases

Genetic and Rare Diseases Information Center (GARD)

Giant axonal neuropathy


Other Names for this Disease
  • GAN
  • GAN1
  • Giant axonal neuropathy 1
  • Neuropathy, giant axonal
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Overview

Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs). Early signs include difficulty walking, lack of coordination, and loss of strength. Over time, the central nervous system (brain and spinal cord) becomes involved, causing a gradual decline in mental function, loss of control of body movements, and seizures. Giant axonal neuropathy is caused by mutations in the GAN gene. It follows and autosomal dominant pattern of inheritance.[1][2] Management is directed by a multidisciplinary team with the goal of optimizing intellectual and physical development.[2]
Last updated: 6/18/2015

References

  1. Giant axonal neuropathy. Genetics Home Reference (GHR). October 2007; http://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy. Accessed 6/18/2015.
  2. Kuhlenbäumer G, Timmerman V, Bomont P. Giant Axonal Neuropathy. GeneReviews. October 9, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1136/. Accessed 6/18/2015.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Giant axonal neuropathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • GAN
  • GAN1
  • Giant axonal neuropathy 1
  • Neuropathy, giant axonal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.