Giant Axonal Neuropathy

Overview

Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Giant Axonal Neuropathy

Topic type

Condition

Category

Neurology

MeSH classification

C10.500.300.490|C10.574.500.495.490|C10.668.829.325|C10.668.829.800.300.490|C16.131.666.300.490|C16.320.400.375.490

Preparing for an appointment about Giant Axonal Neuropathy

If you are speaking with a healthcare professional about Giant Axonal Neuropathy, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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