Spinocerebellar Ataxia with Axonal Neuropathy
Spinocerebellar Ataxia with Axonal Neuropathy
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.
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.
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/
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/
