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Spinocerebellar Ataxia with Axonal Neuropathy

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Spinocerebellar Ataxia with Axonal Neuropathy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • SCAN1

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.

Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
5731 Mosholu Avenue
Bronx, NY 10471
USA
Tel: (347)843-6132
Fax: (718)601-5112
Email: wemove@wemove.org
Internet: http://www.wemove.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
Internet: http://www.ataxia.org

Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street Office 110
Montreal
Quebec, H1M 1X6
Canada
Tel: 5143218684
Tel: 8553218684
Email: ataxie@lacaf.org
Internet: http://www.lacaf.org

International Network of Ataxia Friends
2141 Palerme
Laval
Quebec, H7K 3R7
Canada
Tel: 4506633664
Email: internaf-owner@yahoogroups.com
Internet: http://internaf.org

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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  1/24/2012
Copyright  2008, 2012 National Organization for Rare Disorders, Inc.

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