Spinocerebellar Ataxia with Axonal Neuropathy
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Spinocerebellar Ataxia with Axonal Neuropathy is not the name you expected.
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.
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/
National Ataxia Foundation
- 2600 Fernbrook Lane Suite 119
- Minneapolis, MN 55447
- Tel: (763)553-0020
- Fax: (763)553-0167
- Email: email@example.com
- Website: http://www.ataxia.org
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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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Last Updated: 7/21/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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