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.

Disorder Subdivisions

  • None

General Discussion

SCAN1 is a neurodegenerative disorder that is inherited in an autosomal recessive pattern. Spinocerebellar ataxia with axonal neuropathy (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)
204 West 84th Street
New York, NY 10024
USA
Tel: (212)875-8312
Fax: (212)875-8389
Email: wemove@wemove.org
Internet: http://www.wemove.org

National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447-4752
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
Suite 110
Montreal
Quebec, Intl H1M 1X6
Canada
Tel: (514) 321-8684
Email: ataxie@lacaf.org
Internet: http://www.lacaf.org

International Network of Ataxia Friends
2141 Palerme
Laval
Quebec, Intl 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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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