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- Ataxia_telangiectasia abstract "Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.A-T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system causing a predisposition to infection. It prevents repair of broken DNA, increasing the risk of cancer.Symptoms most often first appear in early childhood (the toddler stage) when children begin to walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still or sitting, and may appear almost as if they are drunk. In late pre-school and early school age they develop difficulty moving the eyes in a natural manner from one place to the next (oculomotor apraxia). They develop slurred or distorted speech, and swallowing problems. Some have an increased number of respiratory tract infections (ear infections, sinusitis, bronchitis, and pneumonia). Because not all children develop in the same manner or at the same rate, it may be some years before A-T is properly diagnosed. Most children with A-T have stable neurologic symptoms for the first 4–5 years of life, but begin to show increasing problems in early school years.A-T is caused by a defect in the ATM gene, which is responsible for managing the cell’s response to multiple forms of stress including double-strand breaks in DNA. In simple terms, the protein produced by the ATM gene recognizes that there is a break in DNA, recruits other proteins to fix the break, and stops the cell from making new DNA until the repair is complete.".
- Ataxia_telangiectasia diseasesdb "1025".
- Ataxia_telangiectasia emedicineSubject "derm".
- Ataxia_telangiectasia emedicineTopic "691".
- Ataxia_telangiectasia icd10 "G11.3".
- Ataxia_telangiectasia icd9 "334.8".
- Ataxia_telangiectasia medlineplus "001394".
- Ataxia_telangiectasia meshId "D001260".
- Ataxia_telangiectasia omim "208900".
- Ataxia_telangiectasia wikiPageExternalLink AdvocacyOrgs..
- Ataxia_telangiectasia wikiPageExternalLink www.atcp.org.
- Ataxia_telangiectasia wikiPageExternalLink en.
- Ataxia_telangiectasia wikiPageExternalLink www.atsociety.org.uk.
- Ataxia_telangiectasia wikiPageExternalLink ataxia-telangiectasia.
- Ataxia_telangiectasia wikiPageExternalLink www.featmovie.com.
- Ataxia_telangiectasia wikiPageExternalLink bv.fcgi?rid=eurekah.section.17952.
- Ataxia_telangiectasia wikiPageExternalLink br.fcgi?book=gene&part=ataxia-telangiectas.
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- Ataxia_telangiectasia wikiPageExternalLink OC_Exp.php?Lng=GB&Expert=100.
- Ataxia_telangiectasia wikiPageExternalLink www.wobblyfeet.org.
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- Ataxia_telangiectasia diseasesdb "1025".
- Ataxia_telangiectasia emedicinesubj "derm".
- Ataxia_telangiectasia emedicinetopic "691".
- Ataxia_telangiectasia hasPhotoCollection Ataxia_telangiectasia.
- Ataxia_telangiectasia icd "334.8".
- Ataxia_telangiectasia icd "G11.3".
- Ataxia_telangiectasia medlineplus "1394".
- Ataxia_telangiectasia meshid "D001260".
- Ataxia_telangiectasia name "Ataxia Telangiectasia".
- Ataxia_telangiectasia omim "208900".
- Ataxia_telangiectasia wordnet_type synset-disease-noun-1.
- Ataxia_telangiectasia subject Category:Chromosome_instability_syndromes.
- Ataxia_telangiectasia subject Category:DNA_replication_and_repair-deficiency_disorders.
- Ataxia_telangiectasia subject Category:Genodermatoses.
- Ataxia_telangiectasia subject Category:IUIS-PID_table_3_immunodeficiencies.
- Ataxia_telangiectasia subject Category:Neurodegenerative_disorders.
- Ataxia_telangiectasia subject Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- Ataxia_telangiectasia type Abstraction100002137.
- Ataxia_telangiectasia type Attribute100024264.
- Ataxia_telangiectasia type ChromosomeInstabilitySyndromes.
- Ataxia_telangiectasia type Cognition100023271.
- Ataxia_telangiectasia type Complex105870365.
- Ataxia_telangiectasia type Concept105835747.
- Ataxia_telangiectasia type Condition113920835.
- Ataxia_telangiectasia type Content105809192.
- Ataxia_telangiectasia type Disease114070360.
- Ataxia_telangiectasia type Disorder114052403.
- Ataxia_telangiectasia type IUIS-PIDTable3Immunodeficiencies.
- Ataxia_telangiectasia type Idea105833840.
- Ataxia_telangiectasia type IllHealth114052046.
- Ataxia_telangiectasia type Illness114061805.
- Ataxia_telangiectasia type Immunodeficiency113974317.
- Ataxia_telangiectasia type ImmunologicalDisorder113973990.
- Ataxia_telangiectasia type NeurodegenerativeDisorders.
- Ataxia_telangiectasia type PathologicalState114051917.
- Ataxia_telangiectasia type PhysicalCondition114034177.
- Ataxia_telangiectasia type PsychologicalFeature100023100.
- Ataxia_telangiectasia type State100024720.
- Ataxia_telangiectasia type Syndrome105870790.
- Ataxia_telangiectasia type Whole105869584.
- Ataxia_telangiectasia type Disease.
- Ataxia_telangiectasia type AilmentCondition.
- Ataxia_telangiectasia type Situation.
- Ataxia_telangiectasia comment "Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.A-T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system causing a predisposition to infection.".
- Ataxia_telangiectasia label "Atassia-teleangectasia".
- Ataxia_telangiectasia label "Ataxia telangiectasia".
- Ataxia_telangiectasia label "Ataxia-Telangiectasia".
- Ataxia_telangiectasia label "Ataxie télangiectasie".
- Ataxia_telangiectasia label "Louis-Bar-Syndrom".
- Ataxia_telangiectasia label "Zespół ataksja-teleangiektazja".
- Ataxia_telangiectasia label "رنح توسع الشعريات".
- Ataxia_telangiectasia label "共濟失調微血管擴張症候群".
- Ataxia_telangiectasia label "毛細血管拡張性運動失調症".
- Ataxia_telangiectasia sameAs Louis-Bar-Syndrom.
- Ataxia_telangiectasia sameAs Ataxia-Telangiectasia.
- Ataxia_telangiectasia sameAs Ataxie_télangiectasie.
- Ataxia_telangiectasia sameAs Atassia-teleangectasia.
- Ataxia_telangiectasia sameAs 毛細血管拡張性運動失調症.
- Ataxia_telangiectasia sameAs Zespół_ataksja-teleangiektazja.
- Ataxia_telangiectasia sameAs m.042cwb.
- Ataxia_telangiectasia sameAs Q387082.
- Ataxia_telangiectasia sameAs Q387082.
- Ataxia_telangiectasia sameAs 118.
- Ataxia_telangiectasia sameAs Ataxia_telangiectasia.
- Ataxia_telangiectasia wasDerivedFrom Ataxia_telangiectasia?oldid=603957530.
- Ataxia_telangiectasia isPrimaryTopicOf Ataxia_telangiectasia.
- Ataxia_telangiectasia name "Ataxia Telangiectasia".