{"Name":"Ataxia - telangiectasia variant","DiseaseID__c":"GARD:0021597","id":21597,"encodedName":"ataxia-telangiectasia-variant","IsDeleted":false,"Disease_Name_Full__c":"Ataxia - telangiectasia variant","Xref_IDs__c":"C1876175; MEDGEN:406286; MONDO:0018266; ORPHA:370109","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018266","Disease_Description__c":"A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.","GARD_Name__c":"Ataxia - telangiectasia variant","GARD_Synonym__c":"ataxia telangiectasia variant; ataxia-telangiectasia variant; v-at; v-at - ataxia telangiectasia variant","Curated_Disease_Description_Source__c":"MONDO:0018266","Curated_Disease_Description__c":"A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:370109","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018266","ORPHANET_ID__c":"ORPHA:370109","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Variante de ataxia-telangiectasia","Spanish_Description_Source__c":"ORPHA:370109","Spanish_Description__c":"Es una distonía combinada persistente, de origen genético y poco frecuente, caracterizada por signos clínicos similares a la ataxia-telangiectasia pero con un inicio tardío (generalmente en la edad adulta) y una progresión más lenta. Los afectados suelen presentar signos extrapiramidales como síntomas iniciales, tales como temblor de reposo, coreoatetosis y distonía, desarrollando posteriormente con frecuencia ataxia cerebelosa leve (con la marcha normalmente conservada). La telangiectasia y la inmunodeficiencia pueden estar ausentes, pero las características secundarias de la ataxia-telangiectasia, tales como el riesgo de desarrollar neoplasias, disartria y neuropatía periférica, están con frecuencia presentes.","Spanish_Disease_Name__c":"variante de ataxia-telangiectasia","Spanish_GARD_Synonym__c":"v-at","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.","Curated_Disease_Description_Source__c":"MONDO:0018266","GARD_Synonym__c":"ataxia telangiectasia variant; ataxia-telangiectasia variant; v-at; v-at - ataxia telangiectasia variant","Name":"Ataxia - telangiectasia variant","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"AT Society","Website__c":"https://atsociety.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/370109","Source__c":"C1876175; MONDO:0018266; ORPHA:370109","Xref__c":"ORPHA:370109"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1876175","Source__c":"C1876175","Xref__c":"C1876175"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=406286","Source__c":"C1876175","Xref__c":"MEDGEN:406286"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763065008","Source__c":"C1876175","Xref__c":"763065008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018266","Source__c":"GARD:0021597","Xref__c":"MONDO:0018266"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atm","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology"],"Account":["Dystonia"]},"synonyms":["ataxia telangiectasia variant"," ataxia-telangiectasia variant"," v-at"," v-at - ataxia telangiectasia variant"]}