Ataxia-telangiectasia (AT) is a rare, inherited disease that affects the nervous system, immune system and other body systems. Symptoms appear in young children and include
- Ataxia - trouble coordinating movements
- Poor balance
- Slurred speech
- Tiny, red spider veins, called telangiectasias, on the skin and eyes
- Lung infections
- Delayed physical and sexual development
People with AT have an increased risk of developing diabetes and cancer, particularly lymphoma and leukemia. Although it affects the brain, people with AT usually have normal or above normal intelligence.
AT has no cure. Treatments might improve some symptoms. Options include injections to strengthen the immune system, physical and speech therapy and high-dose vitamin therapy. People with AT usually die in their teens or early twenties.
National Institute of Neurological Disorders and Stroke
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Ataxia Telangiectasia
(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/a_t/a-t.htm
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Genetics Home Reference: Ataxia-telangiectasia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia
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Ataxia Telangiectasia(National Cancer Institute) - http://www.cancer.gov/cancertopics/factsheet/ataxiaqa
- Ataxia-Telangiectasia(Jeffrey Modell Foundation) - http://www.info4pi.org/patienttopatient/index.cfm?section=patienttopatient&content=syndromes&area=9&CFID=3169571&CFTOKEN=2854607
- What Is Ataxia-Telangiectasia?(Ataxia-Telangiectasia Children's Project) - http://www.communityatcp.org/NETCOMMUNITY/Page.aspx?pid=588&srcid=567
- Handbook for Families and Caregivers(Ataxia-Telangiectasia Children's Project) - http://www.communityatcp.org/NETCOMMUNITY/Page.aspx?pid=401&srcid=232
- Ataxia-Telangiectasia (A-T) and Cancer Risk(Ataxia-Telangiectasia Children's Project) - http://www.communityatcp.org/NETCOMMUNITY/Document.Doc?&id=91
- Ataxia-Telangiectasia (A-T) and Estrogen Replacement in Females(Ataxia-Telangiectasia Children's Project) - http://www.communityatcp.org/NETCOMMUNITY/Document.Doc?&id=92
- Ataxia-Telangiectasia (A-T) and Swallowing Problems(Ataxia-Telangiectasia Children's Project) - http://www.communityatcp.org/NETCOMMUNITY/Document.Doc?&id=94
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ClinicalTrials.gov: Ataxia Telangiectasia(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Ataxia+Telangiectasia%22
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Genetics Home Reference: Ataxia-telangiectasia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia
- How is Ataxia-Telangiectasia Inherited?(Ataxia-Telangiectasia Children's Project) - http://www.communityatcp.org/NETCOMMUNITY/Page.aspx?pid=589&srcid=594
- Race for a Cure: Basic Science Research(Ataxia-Telangiectasia Children's Project) - http://www.communityatcp.org/NETCOMMUNITY/Page.aspx?&pid=272&srcid=353
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Ataxia-telangiectasia: from a rare disorder to a paradigm for cell... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18813293&tool=MedlinePlus
- Article: Polysomnographic values in adolescents with ataxia telangiectasia. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18508371&tool=MedlinePlus
- Article: Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18505428&tool=MedlinePlus
- Ataxia Telangiectasia -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=ataxia+telangiectasia[majr]+AND+humans[mh]+AND+english[la]+NOT+(letter[pt]+OR+case+reports[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- ataxia-telangiectasia - http://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&binning-state=group%3d%3dMedical%20Encyclopedia&query=ataxia%2Dtelangiectasia
- Find a Neurologist(American Academy of Neurology) - http://www.thebrainmatters.org/index.cfm?key=1.2.2
- Ataxia-Telangiectasia Children's Project - http://www.atcp.org/
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National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/
Also available in Spanish http://espanol.ninds.nih.gov/
- Movement Disorders - http://www.nlm.nih.gov/medlineplus/movementdisorders.html
- Brain and Nerves - http://www.nlm.nih.gov/medlineplus/brainandnerves.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
The primary NIH organization for research on Ataxia Telangiectasia is the National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/