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.

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.

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

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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

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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 1534 free, full-text research articles on human participants. First 3 results:

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
 

Author(s): Anna C Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Mary O'Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew J Duncan, Yun Jin Pai, Jorge M Saraiva, Fabiana Ramos, Bernadette Farren, Dawn Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas W Wood, Joshua Hersheson, Henry Houlden, Jane Hurst, Richard Scott, Maria Bitner-Glindzicz, Gudrun E Moore, Sérgio B Sousa, Philip Stanier

Journal: Am. J. Hum. Genet.. 2014 Nov;95(5):611-21.

 

Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals ...

Last Updated: 2 Dec 2014

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[Opsoclonus-ataxia syndrome in an adolescent: an acute otitis media complication].
 

Author(s): Rafael Bispo de Souza, Pedro Henrique Alves do Amaral, Daniel de Sousa Michels, Lisiane Seguti Ferreira

Journal: Braz J Otorhinolaryngol. ;80(5):455-6.

 

Last Updated: 11 Oct 2014

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Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients.
 

Author(s): Adriana Moro, Renato P Munhoz, Walter O Arruda, Salmo Raskin, Mariana Moscovich, Hélio A G Teive

Journal: Arq Neuropsiquiatr. 2014 Sep;72(9):659-62.

 

Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems.

Last Updated: 25 Sep 2014

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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 110 free, full-text review articles on human participants. First 3 results:

Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames.
 

Author(s): Matthis Synofzik, Winfried Ilg

Journal: Biomed Res Int. 2014 ;2014():583507.

 

The cerebellum is essentially involved in movement control and plays a critical role in motor learning. It has remained controversial whether patients with degenerative cerebellar disease benefit from high-intensity coordinative training. Moreover, it remains unclear by which training ...

Last Updated: 30 May 2014

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The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
 

Author(s): Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho

Journal: Neuroepidemiology. 2014 ;42(3):174-83.

 

Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their ...

Last Updated: 1 Apr 2014

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Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.
 

Author(s): Marguerite V Evans-Galea, Paul J Lockhart, Charles A Galea, Anthony J Hannan, Martin B Delatycki

Journal: Discov Med. 2014 Jan;17(91):25-35.

 

Friedreich ataxia (FRDA) is a devastating neurodegenerative disease caused by mutations in the frataxin gene (FXN). Frataxin is an essential protein which localizes to the mitochondria and is required for the synthesis of iron-sulfur clusters and heme. Most individuals with FRDA are ...

Last Updated: 13 Jan 2014

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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

Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
 

Status: Recruiting

Condition Summary: Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 6

 

Last Updated: 8 Jan 2015

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Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients
 

Status: Not yet recruiting

Condition Summary: Ataxia Telangiectasia

 

Last Updated: 15 Mar 2010

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Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)
 

Status: Recruiting

Condition Summary: Ataxia Telangiectasia; Growth Failure

 

Last Updated: 2 Jul 2010

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