Spinocerebellar Ataxia with Axonal Neuropathy

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Spinocerebellar Ataxia with Axonal Neuropathy is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Spinocerebellar ataxia with axonal neuropathy (SCAN1) is a neurodegenerative disorder that is inherited in an autosomal recessive pattern. SCAN1 is characterized by late childhood-onset of a slowly progressive cerebellar ataxia, followed by areflexia and signs of peripheral neuropathy. Gaze nystagmus and cerebellar dysarthria usually develop after the onset of ataxic gait. As the disease advances, pain and touch sensation become impaired in the hands and legs; vibration sense disappears in hands and lower thigh. Individuals with advanced disease develop a steppage gait and pes cavus; and later become wheelchair dependent. Affected individuals have normal intellect and longevity.

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

International Network of Ataxia Friends

2141 Palerme
Quebec, H7K 3R7
Canada
Tel: 4506633664
Email: internaf-owner@yahoogroups.com
Website: http://internaf.org

National Ataxia Foundation

2600 Fernbrook Lane Suite 119
Minneapolis, MN 55447
USA
Tel: (763)553-0020
Fax: (763)553-0167
Email: naf@ataxia.org
Website: http://www.ataxia.org

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".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

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:  7/21/2015
Copyright  2015 National Organization for Rare Disorders, Inc.