{"orpha":71518,"name":"Benign paroxysmal torticollis of infancy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71518/","orphanet_url":"https://www.orpha.net/en/disease/detail/71518","names":{"fr":{"name":"Torticolis paroxystique bénin de l'enfant","definition":"Dystonie paroxystique rare et transitoire caractérisée par l'apparition d'épisodes récurrents de torticoli survenant entre la petite enfance et le début de l'enfance."},"de":{"name":"Torticollis, benigner paroxysmaler, des Kindesalters","definition":"Eine seltene, vorübergehende, paroxysmale Dystonie zwischen dem Säuglingsalter und dem frühen Kindesalter, die durch das Auftreten von wiederkehrenden Episoden schiefwinkliger Kopfhaltung gekennzeichnet ist."},"es":{"name":"Torticolis paroxística benigna del lactante","definition":"Es una distonía paroxística transitoria poco frecuente caracterizada por la aparición de episodios recurrentes de tortícolis de la cabeza entre la lactancia y la primera infancia."},"it":{"name":"Torcicollo parossistico benigno infantile","definition":"Si tratta di una distonia parossistica transitoria rara, caratterizzata da episodi ricorrenti di torcicollo da malposizionamento della testa che esordiscono nel periodo neonatale o nella prima infanzia."},"nl":{"name":"Goedaardige paroxysmale torticollis in zuigelingenperiode","definition":"Een zeldzame, transiënte paroxysmale dystonie gekarakteriseerd dor aanvang van recurrente episodes van scheefstand van het hoofd tussen de zuigelingentijd en vroege kindertijd."},"pt":{"name":"Torcicolo paroxístico benigno da infância"},"pl":{"name":"Łagodny napadowy kręcz karku niemowląt"},"cs":{"name":"Benigní infantilní paroxysmální tortikolis"},"uk":{"name":"Доброякісна пароксизмальна кривошия немовлят","definition":"A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollic posturing of the head between infancy and early-childhood."},"zh":{"name":"良性婴儿阵发性斜颈"},"tr":{"name":"Süt çocuğunda selim paroksismal tortikollisi"}},"xrefs":[{"source":"ICD-10","code":"G24.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"545726308"},{"source":"MONDO","code":"0019113","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3494934","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":200037,"name":"Paroxysmal dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CACNA1A","name":"calcium voltage-gated channel subunit alpha1 A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12162387[PMID]","hgnc":"1388","ensembl":"ENSG00000141837","omim":"601011","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable","Unknown"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_19182151[PMID]_29956301[PMID]_29656928[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-10","source":"12162387[PMID]_25644090[PMID]","terms":[{"hpo":"HP:0000473","label":"Torticollis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null}]}}