{"orpha":53351,"name":"X-linked dystonia-parkinsonism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT3","Lubag","Lubag syndrome","XDP"],"definition":"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53351/","orphanet_url":"https://www.orpha.net/en/disease/detail/53351","names":{"fr":{"name":"Dystonie-parkinsonisme liée à l'X","synonyms":["DYT3","Lubag","Syndrome de Lubag","XDP"],"definition":"La dystonie-parkinsonisme liée à l'X (XDP) est une maladie du mouvement neurodégénérative caractérisée par l'apparition d'un syndrome parkinsonien à l'âge adulte. Celui-ci s'accompagne fréquemment d'une dystonie focale ayant tendance à se généraliser avec le temps et dont l'évolution clinique est très variable."},"de":{"name":"Dystonie-Parkinson-Syndrom, X-chromosomales","synonyms":["DYT3","Dystonie-Parkinson-Syndrom Lubag","Lubag-Syndrom","XDP"],"definition":"Der X-chromosomale Dystonie-Parkinsonismus (XDP) ist eine neurodegenerative Bewegungsstörung und gekennzeichnet durch im Erwachsenenalter einsetzenden Parkinsonismus. Dieser ist häufig begleitet von einer fokalen Dystonie, die im weiteren Verlauf generalisiert. Der klinische Verlauf des XDP ist außerordentlich variabel."},"es":{"name":"Distonía-parkinsonismo ligada al cromosoma X","synonyms":["DYT3","Lubag","Síndrome de Lubag","XDP"],"definition":"La distonía-parkinsonismo ligada al X (XDP) es un trastorno degenerativo del movimiento caracterizado por un parkinsonismo de aparición en la edad adulta, acompañado con frecuencia por una distonía focal que se convierte en generalizada con el tiempo y que tiene una evolución clínica muy variable."},"it":{"name":"Distonia - parkinsonismo, legato all'X","synonyms":["DYT3","Lubag","Sindrome di Lubag","XDP"],"definition":"La distonia-parkinsonismo legato all'X (XDP) è un disturbo neurodegenerativo del movimento, caratterizzato da parkinsonismo ad esordio nell'età adulta, associato spesso a distonia focale, che si generalizza con il tempo e che presenta una storia naturale estremamente variabile."},"nl":{"name":"X-gebonden dystonie - parkinsonisme","synonyms":["DYT3","Lubag","Lubagsyndroom","XDP"],"definition":"X-gebonden dystonie - parkinsonisme (XDP) is een neurodegeneratieve bewegingsstoornis die wordt gekarakteriseerd door parkinsonisme met aanvang in de volwassenheid, vaak in combinatie met focale dystonie die na verloop van tijd generaliseert. Het klinisch verloop van XDP is hoogst variabel."},"pt":{"name":"Distonia-Parkinsonismo ligado ao X","definition":"A distonia-parkinsonismo ligada ao X (XDP) é caracterizada pela associação de distonia de gravidade variável com parkinsonismo (bradicinesia, rigidez, perda de reflexos posturais e tremor de repouso fino)."},"pl":{"name":"Dystonia sprzężona z chromosomem X-parkinsonizm","synonyms":["DYT3","Lubag","XDP","Zespół Lubag"]},"cs":{"name":"X-vázaná dystonie a parkinsonismus","synonyms":["DYT3","Lubag","Lubag syndrom","XDP"]},"uk":{"name":"Х-зчеплена дистонія-паркінсонізм","synonyms":["DYT3","Lubag","Синдром Любага","XDP"],"definition":"X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."},"zh":{"name":"X连锁肌张力障碍型帕金森病","synonyms":["Lubag综合征"]},"tr":{"name":"X'e bağlı distoni-parkinsonizm","synonyms":["XDP","DYT3","Lubag","Lubag sendromu"]}},"xrefs":[{"source":"OMIM","code":"314250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"545567308"},{"source":"MONDO","code":"0010747","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564048","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839130","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10533","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]},{"orpha":307055,"name":"Rare parkinsonian syndrome due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"TAF1","name":"TATA-box binding protein associated factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11535","ensembl":"ENSG00000147133","omim":"313650","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","X-linked recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"15390042[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.31,"area":"Philippines","status":"Validated","source":"21047175[PMID]_20301662[PMID]_ [EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-12","source":"22030388[PMID]_20482602[PMID]_12928496[PMID]_941767[PMID]","terms":[{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002548","label":"Parkinsonism with favorable response to dopaminergic medication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007158","label":"Progressive extrapyramidal muscular rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001304","label":"Torsion dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031162","label":"Impaired oropharyngeal swallow response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006511","label":"Laryngeal stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Occasional (29-5%)","criteria":null}]}}