Giant Axonal Neuropathy
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Giant Axonal Neuropathy is not the name you expected.
Giant axonal neuropathy is a rare neuropathy that severely affects the peripheral as well as the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central nervous systems including low muscle tone (hypotonia), muscle weakness, decreased reflexes, impaired muscle coordination (ataxia), seizures and intellectual disability. Pale, tightly curled hair is frequently seen in those affected. Giant axonal neuropathy follows autosomal recessive genetic inheritance.
Child Neurology Foundation
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Genetic and Rare Diseases (GARD) Information Center
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Hannah's Hope Fund
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March of Dimes
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Muscular Dystrophy Canada
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NIH/National Institute of Neurological Disorders and Stroke
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 2/7/2013
Copyright 2013 National Organization for Rare Disorders, Inc.
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