Infantile onset spinocerebellar ataxia

Common Name(s)

Infantile onset spinocerebellar ataxia

Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance. People with IOSCA may experience excessive sweating, difficulty controlling urination, and severe constipation. IOSCA also leads to vision and hearing problems that begin by about age 7. Children with this disorder develop weakness in the muscles that control eye movement (ophthalmoplegia). In their teenage years they experience degeneration of the nerves that carry information from the eyes to the brain (optic atrophy), which can result in vision loss. Hearing loss caused by nerve damage (sensorineural hearing loss) typically occurs during childhood and progresses to profound deafness. Individuals with IOSCA may have recurrent seizures (epilepsy). These seizures can lead to severe brain dysfunction (encephalopathy). Most people with IOSCA survive into adulthood. However, a few individuals with IOSCA have an especially severe form of the disorder involving liver damage and encephalopathy that develops during early childhood. These children do not generally live past age 5.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile onset spinocerebellar ataxia" for support, advocacy or research.

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National Ataxia Foundation

The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

Last Updated: 12 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile onset spinocerebellar ataxia" for support, advocacy or research.

Logo
National Ataxia Foundation

The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

http://www.ataxia.org

Last Updated: 12 Dec 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Infantile onset spinocerebellar ataxia" returned 6 free, full-text research articles on human participants. First 3 results:

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
 

Author(s): Mi-Hyun Park, Hae-Mi Woo, Young Bin Hong, Ji Hoon Park, Bo Ram Yoon, Jin-Mo Park, Jeong Hyun Yoo, Heasoo Koo, Jong-Hee Chae, Ki Wha Chung, Byung-Ok Choi, Soo Kyung Koo

Journal: Neurogenetics. 2014 Aug;15(3):171-82.

 

Recessive mutations in chromosome 10 open reading frame 2 (C10orf2) are relevant in infantile-onset spinocerebellar ataxia (IOSCA). In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimotor polyneuropathy, and myopathy. ...

Last Updated: 18 Jul 2014

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Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.
 

Author(s): Tua Vinther-Jensen, Jakob Ek, Morten Duno, Flemming Skovby, Lena E Hjermind, Jørgen E Nielsen, Troels Tolstrup Nielsen

Journal: Eur. J. Hum. Genet.. 2013 Jun;21(6):626-9.

 

The spinocerebellar ataxias (SCA) are a genetically and clinically heterogeneous group of diseases, characterized by dominant inheritance, progressive cerebellar ataxia and diverse extracerebellar symptoms. A subgroup of the ataxias is caused by unstable CAG-repeat expansions in their ...

Last Updated: 16 May 2013

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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
 

Author(s): Anna H Hakonen, Steffi Goffart, Sanna Marjavaara, Anders Paetau, Helen Cooper, Kimmo Mattila, Milla Lampinen, Antti Sajantila, Tuula Lönnqvist, Johannes N Spelbrink, Anu Suomalainen

Journal: Hum. Mol. Genet.. 2008 Dec;17(23):3822-35.

 

Infantile-onset spinocerebellar ataxia (IOSCA) is a severe neurodegenerative disorder caused by the recessive mutation in PEO1, leading to an Y508C change in the mitochondrial helicase Twinkle, in its helicase domain. However, no mitochondrial dysfunction has been found in this disease. ...

Last Updated: 10 Nov 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Infantile onset spinocerebellar ataxia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.