{"orpha":53583,"name":"Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT9","Episodic choreoathetosis/spasticity"],"definition":"A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53583/","orphanet_url":"https://www.orpha.net/en/disease/detail/53583","names":{"fr":{"name":"Choréoathétose dystonique paroxystique avec ataxie épisodique et spasticité","synonyms":["Choréoathétose/spasticité épisodiques","DYT9"],"definition":"Dystonie paroxystique rare, d'origine génétique, caractérisée par l'apparition, pendant l'enfance ou l'adolescence, d'une choréoathétose paroxystique épisodique principalement déclenchée par des mouvements brusques, un effort prolongé, l'anxiété et le stress émotionnel, en association avec une paraparésie spastique progressive (apparaissant à l'âge adulte), une ataxie de la marche, des troubles cognitifs légers à modérés et/ou des crises d'épilepsie. Les épisodes durent généralement de quelques minutes à quelques heures, sont de fréquence variable (de quotidiens à annuels) et sont soulagés avec le repos. La fréquence des épisodes diminue avec l'âge."},"de":{"name":"Paroxysmale dystonische Choreoathetose mit episodischer Ataxie und Spastik","synonyms":["Choreoathetose/Spastik, episodisch","DYT9"],"definition":"Eine seltene, genetisch bedingte, paroxysmale Dystonie, die durch episodisch auftretende, paroxysmale Choreoathetose im Kindes- bis Jugendalter gekennzeichnet ist, die hauptsächlich durch plötzliche Bewegungen, anhaltende Bewegung, Angst und emotionalen Stress ausgelöst wird. Sie tritt in Verbindung mit progressiver spastischer Paraparese (meist im Erwachsenenalter), Gangataxie, leichter bis mittlerer kognitiver Beeinträchtigung und/oder epileptischen Anfällen auf. Die Episoden dauern typischerweise einige Minuten bis Stunden, haben eine variable Häufigkeit (täglich bis jährlich) und werden durch Ruhe gelindert. Die Häufigkeit der Episoden nimmt mit dem Alter tendenziell ab."},"es":{"name":"Coreoatetosis distónica paroxística con ataxia episódica y espasticidad","synonyms":["Coreoatetosis/espasticidad episódicas","DYT9"],"definition":"Es una distonía paroxística de origen genético y poco frecuente caracterizada por coreoatetosis paroxística episódica de inicio entre la infancia y la adolescencia, desencadenada principalmente por movimientos bruscos, ejercicio prolongado, ansiedad y estrés emocional, que asocia paraparesia espástica progresiva (de inicio en la edad adulta), ataxia de la marcha, deterioro cognitivo de leve a moderado, y/o crisis epilépticas. Los episodios suelen durar desde unos minutos hasta horas, se presentan con una frecuencia variable (de diaria a anual) y mejoran con el reposo. La frecuencia de los episodios tiende a disminuir con la edad."},"it":{"name":"Coreoatetosi distonica parossistica con atassia episodica e spasticità","synonyms":["Coreoatetosi/spasticità episodiche","DYT9"],"definition":"Si tratta di una distonia parossistica genetica rara, caratterizzata da episodi di coreoatetosi parossistica che esordiscono nell'infanzia o nell'adolescenza, e sono scatenati per lo più da movimenti improvvisi, esercizio fisico prolungato, ansia e stress emotivo, associati a paraparesi spastica progressiva (ad esordio nell'età adulta), andatura atassica, deficit cognitivo lieve-moderato e/o crisi epilettiche. Di solito gli episodi durano da qualche minuto a qualche ora, hanno una frequenza variabile (da giornaliera ad annuale) e sono alleviati dal riposo. La frequenza degli episodi tende a diminuire con l'età."},"nl":{"name":"Paroxysmale dystonische choreathetose met episodische ataxie en spasticiteit","synonyms":["DYT9","Episodische choreoathetose/spasticiteit"],"definition":"Een zeldzame, genetische, paroxysmale dystonie gekarakteriseerd door aanvang in de kindertijd tot adolescentie van episodische paroxysmale choreoathetose, voornamelijk uitgelokt door plotse bewegingen, langdurige inspanning, angst en emotionele stress, geassocieerd met progressieve spastische paraparese (aanvang in de volwassenheid), gangataxie, milde tot matige cognitieve stoornis, en/of epileptische insulten. Episodes duren doorgaans enkele minuten tot uren, hebben een variabele frequentie (dagelijks tot jaarlijks), en worden verlicht door rust. De frequentie van de episodes tonen de neiging om af te nemen met de leeftijd."},"pt":{"name":"Coreoatetose - espasticidade, episódica"},"pl":{"name":"Napadowa choreoatetoza dystoniczna z epizodyczną ataksją i spastycznością","synonyms":["Choreoatetoza/spastyczność epizodyczna","DYT9"]},"cs":{"name":"Paroxysmální dystonická choreoatetóza s epizodickou ataxií a spasticitou","synonyms":["DYT9","Epizodická choreoatetóza/spasticita"]},"uk":{"name":"Пароксизмальний дистонічний хореатетоз з епізодичною атаксією та спастичністю","synonyms":["DYT9","Епізодичний хореоатетоз/спастичність"],"definition":"A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age."},"zh":{"name":"阵发性肌张力障碍性舞蹈病伴发作性共济失调和痉挛","synonyms":["发作性舞蹈手足徐动症/痉挛状态"]},"tr":{"name":"Epizodik ataksi ve spastisite ile seyreden paroksismal distonik koreatetoz","synonyms":["DYT9","Epizodik koreoatetoz/spastisite"]}},"xrefs":[{"source":"OMIM","code":"601042","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"387202586"},{"source":"MONDO","code":"0010983","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832855","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":"SLC2A1","name":"solute carrier family 2 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21832227[PMID]","hgnc":"11005","ensembl":"ENSG00000117394","omim":"138140","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"21832227[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21832227[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-18","source":"20482602[PMID]_8808284[PMID]_21832227[PMID]","terms":[{"hpo":"HP:0007166","label":"Paroxysmal dyskinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002131","label":"Episodic ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}