{"orpha":228169,"name":"Autosomal dominant striatal neurodegeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADSD"],"definition":"An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228169/","orphanet_url":"https://www.orpha.net/en/disease/detail/228169","names":{"fr":{"name":"Neurodégénérescence striatale autosomique dominante","synonyms":["ADSD"],"definition":"La neurodégénérescence striatale autosomique dominante (ADSD) est un trouble du mouvement chez l'adulte caractérisé par une bradykinésie, une dysarthrie et une rigidité musculaire."},"de":{"name":"Neurodegeneration, striatale, autosomal-dominante","synonyms":["ADSD"],"definition":"Eine bei Erwachsenen auftretende Bewegungsstörung, die durch Bradykinesie, Dysarthrie und Muskelsteifheit gekennzeichnet ist."},"es":{"name":"Neurodegeneración estriatal autosómica dominante","synonyms":["ADSD"],"definition":"Es un trastorno del movimiento de inicio en la edad adulta caracterizado por bradicinesia, disartria y rigidez muscular."},"it":{"name":"Neurodegenerazione striatale autosomica dominante","synonyms":["ADSD"]},"nl":{"name":"Autosomaal dominante striatale neurodegeneratie","synonyms":["ADSD"],"definition":"Een bewegingsstoornis met aanvang in de volwassenheid, gekenmerkt door bradykinesie, dysartrie en spierstijfheid."},"pt":{"name":"Neurodegenerescência do estriado autossómica dominante"},"pl":{"name":"Autosomalna dominująca neurodegeneracja prążkowia","synonyms":["ADSD"]},"cs":{"name":"Autozomálně dominantní striatová neurodegenerace","synonyms":["ADSD"]},"uk":{"name":"Аутосомно-домінантна стриарна нейродегенерація","synonyms":["ADSD"],"definition":"An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity."},"zh":{"name":"常染色体显性遗传纹状体神经变性","synonyms":["ADSD"],"definition":"一种以运动迟缓、构音障碍和肌肉僵硬为特征的成人期发病运动障碍。"},"tr":{"name":"Otozomal dominant striatal nörodejenerasyon","synonyms":["ADSD"]}},"xrefs":[{"source":"OMIM","code":"609161","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0000211","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511004","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"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":"PDE8B","name":"phosphodiesterase 8B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20085714[PMID]","hgnc":"8794","ensembl":"ENSG00000113231","omim":"603390","loci":["5q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"38818539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15210883[PMID]_26769607[PMID]_26475694[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null}]}}