Ataxia

Common Name(s)

Ataxia

Ataxia occurs as a result of damage to a part of the brain called the cerebellum which controls muscle movement. Other causes of ataxia include alcohol abuse, stroke, tumor, cerebral palsy or multiple sclerosis. Ataxia can be passed on through your genes without your parents ever showing symptoms of having the disease. Common symptoms of ataxia include slurred speech, difficulty walking, losing your balance and having trouble swallowing. As ataxia develops, it may become harder to walk, button up shirts, grasp small objects, swallow food/saliva or control your eye movements. Treatment for ataxia includes physical therapy, occupational therapy and/or speech therapy depending on what type of ataxia you have been diagnosed with.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ataxia" for support, advocacy or research.

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Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

Last Updated: 11 Jul 2016

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Movement Disorder Society

The Movement Disorder Society (MDS) is an international professional society of clinicians, scientists, and other healthcare professionals, who are interested in Parkinson's disease, related neurodegenerative and neurodevelopmental disorders, hyperkinetic movement disorders, and abnormalities in muscle tone and motor control.

Last Updated: 5 May 2014

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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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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ataxia" for support, advocacy or research.

Logo
Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

http://www.bensfriends.org

Last Updated: 11 Jul 2016

View Details
Movement Disorder Society

The Movement Disorder Society (MDS) is an international professional society of clinicians, scientists, and other healthcare professionals, who are interested in Parkinson's disease, related neurodegenerative and neurodevelopmental disorders, hyperkinetic movement disorders, and abnormalities in muscle tone and motor control.

http://www.movementdisorders.org/MDS.htm

Last Updated: 5 May 2014

View Details
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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.

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 "Ataxia" returned 1893 free, full-text research articles on human participants. First 3 results:

Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy.
 

Author(s): QingQing Wang, Lili Guo, Cassandra J Strawser, Lauren A Hauser, Wei-Ting Hwang, Nathaniel W Snyder, David R Lynch, Clementina Mesaros, Ian A Blair

Journal:

 

Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, which results primarily from reduced expression of the mitochondrial protein frataxin. FA has an estimated prevalence of one in 50,000 in the population, making it the most common hereditary ataxia. Paradoxically, ...

Last Updated: 31 Dec 1969

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Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts.
 

Author(s): Björn De Samber, Eline Meul, Brecht Laforce, Boel De Paepe, Joél Smet, Michiel De Bruyne, Riet De Rycke, Sylvain Bohic, Peter Cloetens, Rudy Van Coster, Peter Vandenabeele, Tom Vanden Berghe

Journal:

 

Synchrotron radiation based nanoscopic X-ray fluorescence (SR nano-XRF) analysis can visualize trace level elemental distribution in a fully quantitative manner within single cells. However, in-air XRF analysis requires chemical fixation modifying the cell's chemical composition. ...

Last Updated: 31 Dec 1969

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Somatic instability of the expanded GAA repeats in Friedreich's ataxia.
 

Author(s): Ashlee Long, Jill S Napierala, Urszula Polak, Lauren Hauser, Arnulf H Koeppen, David R Lynch, Marek Napierala

Journal:

 

Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1. FRDA manifests with multiple symptoms, which may include ataxia, cardiomyopathy and diabetes mellitus. Expanded ...

Last Updated: 31 Dec 1969

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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 "Ataxia" returned 153 free, full-text review articles on human participants. First 3 results:

Fragile X-associated tremor/ataxia syndrome.
 

Author(s): Gry Hoem, Jeanette Koht

Journal:

 

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome. There ...

Last Updated: 31 Dec 1969

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The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research.
 

Author(s): Yanling Xu, Peng Gao, Xuejiao Lv, Lin Zhang, Jie Zhang

Journal: Ther Adv Respir Dis. 2017 09;11(9):375-380.

 

Lung cancer is the leading cause of death due to cancer worldwide. It is estimated that approximately 1.2 million new cases of lung cancer are diagnosed each year. Early detection and treatment are crucial for improvements in both prognosis and quality of life of lung cancer patients. ...

Last Updated: 31 Dec 1969

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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
 

Author(s): Jessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B Everman, Lee M Frazer, Michael T Geraghty, Amy D Harper, Julie R Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R Vanstone, Melissa Gibbons, Abigail Collins, Brent L Fogel, , Tracy Dudding-Byth, Kym M Boycott

Journal:

 

Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cerebellar Non-invasive Stimulation in Ataxias
 

Status: Recruiting

Condition Summary: Cerebellar Ataxia

 

Last Updated: 7 Jul 2017

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Biomarkers in Friedreich's Ataxia
 

Status: Recruiting

Condition Summary: Friedreich's Ataxia

 

Last Updated: 1 May 2018

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Effects of Deep Brain Stimulation of the Dentate Nucleus on Cerebellar Ataxia
 

Status: Recruiting

Condition Summary: Cerebellar Ataxia

 

Last Updated: 13 Nov 2017

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