{"orpha":370109,"name":"Ataxia-telangiectasia variant","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["v-AT"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370109/","orphanet_url":"https://www.orpha.net/en/disease/detail/370109","names":{"fr":{"name":"Variant de l'ataxie-télangiectasie","synonyms":["v-AT"],"definition":"Une dystonie génétique combinée, persistante et rare, caractérisée par des signes cliniques similaires à ceux de l'ataxie-télangiectasie, mais avec une survenue plus tardive (généralement pendant l'âge adulte) et une progression plus lente. Habituellement, les patients présentent des signes extrapyramidaux comme manifestations initiales, par exemple un tremblement de repos, une choréoathétose et une dystonie. Plus tardivement, ils développement souvent une légère ataxie cérébelleuse (la marche est généralement préservée). La télangiectasie et l'immunodéficience peuvent être absentes, mais les signes secondaires de l'ataxie-télangiectasie sont souvent présents, tels qu'un risque de malignité, une dysarthrie et une neuropathie périphérique."},"de":{"name":"Ataxia-Teleangiectasia Variante","synonyms":["v-AT"],"definition":"Eine seltene, genetisch bedingte, persistierende kombinierte Dystonie, die durch ähnliche klinische Anzeichen wie die Ataxie-Telangiektasie gekennzeichnet ist, jedoch mit einem späteren Beginn (meist im Erwachsenenalter) und einer langsameren Progression. Die Patienten zeigen im Anfangsstadium typischerweise extrapyramidale Zeichen, wie Ruhetremor, Choreathetose und Dystonie. Später entwickeln Betroffene oft eine leichte Kleinhirnataxie (wobei der Gang normalerweise erhalten bleibt). Telangiektasie und Immunschwäche können fehlen, aber sekundäre Merkmale der Ataxie-Telangiektasie, wie Malignitätsrisiko, Dysarthrie und periphere Neuropathie, sind häufig vorhanden."},"es":{"name":"Variante de ataxia-telangiectasia","synonyms":["v-AT"],"definition":"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."},"it":{"name":"Variante dell'atassia-telangectasia","synonyms":["v-AT"],"definition":"La variante dell'atassia-telangectasia è una distonia genetica rara combinata persistente, con caratteristiche cliniche simili a quelle dell'atassia-telangectasia, ma ad esordio più tardivo (di solito nell'età adulta) e a progressione più lenta. In genere, i segni clinici d'esordio sono quelli extrapiramidali, come il tremore a riposo, la coreoatetosi, la distonia; successivamente, i pazienti spesso sviluppano lieve atassia cerebellare, mantenendo di solito la deambulazione. La telangectasia e l'immunodeficienza possono non essere presenti, ma sono comuni i segni clinici secondari dell'atassia-telangectasia, come l'aumento del rischio di tumori maligni, la disartria e la neuropatia periferica."},"nl":{"name":"Variant van ataxie-teleangiëctasie","synonyms":["v-AT"],"definition":"Een zeldzame, genetische, persisterende gecombineerde dystonie, gekarakteriseerd door klinische tekenen gelijkaardig aan die van ataxie-teleangiëctasie maar met een latere (meestal in de volwassenheid) aanvang en tragere progressie. Patiënten vertonen doorgaans extrapiramidale tekenen, zoals rusttremor, choreoathetose, en dystonie, als de initiële symptomen, en ontwikkelen later vaak milde cerebellaire ataxie (meestal met behoud van stapvermogen). Teleangiëctasie en immuundeficiëntie kunnen afwezig zijn, maar secundaire kenmerken van ataxie-teleangiëctasie, zoals risico op maligniteit, dysartrie en perifere neuropathie, zijn frequent aanwezig."},"pt":{"name":"Ataxia - telangiectasia, variante de"},"pl":{"name":"Wariant ataksja-telangiektazja","synonyms":["v-AT"]},"cs":{"name":"Variantní ataxia-telangiectasia","synonyms":["v-AT","Ataxia teleangiectasia - varianta"]},"uk":{"name":"Варіант атаксії-телеангіектазії","synonyms":["v-AT"],"definition":"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."},"zh":{"name":"共济失调-毛细血管扩张变异","synonyms":["v-AT"],"definition":"本病是一种罕见的遗传性持续性混合肌张力障碍，其临床症状类似于共济失调-毛细血管扩张症，但发病较晚(通常为成年)，且疾病进展较慢。患者通常表现为锥体外系征，首发症状包括静止性震颤、手足徐动症和肌张力障碍等，后期通常可发展为轻度小脑性共济失调(步态通常可保留)。患者可不表现出毛细血管扩张和免疫缺陷，但可表现出共济失调-毛细血管扩张的次要特征，如恶性肿瘤、构音障碍和周围神经病变。"},"tr":{"name":"Ataksi-telenjiektazi varyantı","synonyms":["v-AT"]}},"xrefs":[{"source":"OMIM","code":"208900","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018266","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1876175","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":293838,"name":"Fatal infantile encephalopathy-pulmonary hypertension syndrome","status":"inactive"},{"type":"Moved to","orpha":370114,"name":"Combined cervical dystonia","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATM","name":"ATM serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23946315[PMID]","hgnc":"795","ensembl":"ENSG00000149311","omim":"607585","loci":["11q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}