{"orpha":420485,"name":"Cranio-cervical dystonia with laryngeal and upper-limb involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT24","Dystonia 24"],"definition":"Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420485/","orphanet_url":"https://www.orpha.net/en/disease/detail/420485","names":{"fr":{"name":"Dystonie cranio-cervicale avec atteinte du larynx et des membres supérieures","synonyms":["DYT24","Dystonie 24"],"definition":"Dystonie isolée génétique rare caractérisée par une combinaison variable de dystonie cervicale et de tremblements, de blépharospasme, de dystonie oromandibulaire et laryngée. Progressant lentement, la dystonie peut s'étendre et devenir segmentaire. Des tremblements des bras et des secousses myocloniques des bras ou du cou ont également été décrits."},"de":{"name":"Kraniozervikale Dystonie mit Beteiligung des Larynx und der oberen Extremitäten","synonyms":["DYT24","Dystonie 24"]},"es":{"name":"Distonía craneocervical con afectación laríngea y de las extremidades superiores","synonyms":["DYT24","Distonía 24"],"definition":"La distonía craneocervical con afectación laríngea y de las extremidades superiores, es una distonía aislada, genética y poco frecuente, caracterizada por una combinación variable de distonía cervical con temblor, blefarospasmo, distonía oromandibular y laríngea. La distonía progresa lentamente y puede extenderse hasta convertirse en segmentaria. También se han descrito temblores en los brazos y espasmos mioclónicos en los brazos o el cuello."},"it":{"name":"Distonia craniocervicale con interessamento della laringe e degli arti superiori","synonyms":["DYT24","Distonia 24"],"definition":"La distonia craniocervicale con interessamento della laringe e degli arti superiori è una distonia isolata genetica rara, caratterizzata da distonia cervicale variabilmente associata a tremore, blefarospasmo e distonia oro-mandibolare e laringea. La distonia progredisce lentamente e può diffondersi e diventare segmentale. I pazienti possono presentare tremore del braccio e scosse miocloniche nelle braccia e nel collo."},"nl":{"name":"Cranio-cervicale dystonie met betrokkenheid van larynx en bovenste ledematen","synonyms":["DYT24","Dystonie 24"],"definition":"Cranio-cervicale dystonie met betrokkenheid van larynx en bovenste ledematen is een zeldzame, genetische, geïsoleerde dystonie die gekarakteriseerd wordt door een variabele combinatie van cervicale dystonie met tremor, blefarospasme, en oromandibulaire en laryngeale dystonie. Dystonie evolueert traag en kan verspreiden en segmentaal worden. Tremor van de arm en myoclonische schokbewegingen in de armen of nek werden ook reeds gerapporteerd."},"pt":{"name":"Distonia crânio - cervical com envolvimento laríngeo e dos membros superiores"},"pl":{"name":"Dystonia czaszkowo-szyjna z zajęciem krtani i kończyn górnych","synonyms":["Dystonia 24","DYT24"],"definition":"*Dystonia czaszkowo-szyjna z zajęciem krtani i kończyn górnych jest rzadką, izolowaną genetycznie uwarunkowaną dystonią, która charakteryzuje się zmienną kombinacją dystonii szyjnej z drżeniem, skurczem powiek, dystonią ustno-żuchwową i krtaniową. Dystonia postępuje powoli i może się rozprzestrzeniać, aby przyjąć postać segmentalną. Opisywano również drżenie ramion oraz miokloniczne szarpnięcia ramion lub szyi."},"cs":{"name":"Kraniocervikální dystonie s postižením hrtanu a horních končetin","synonyms":["DYT24","Dystonie 24"]},"uk":{"name":"Краніо-цервікальна дистонія з ураженням гортані та верхніх кінцівок","synonyms":["Дистонія 24","DYT24"],"definition":"Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported."},"zh":{"name":"颅颈部肌张力障碍伴喉及上肢受累","synonyms":["张力异常24型"],"definition":"头颅-颈部肌张力障碍合并喉部和上肢受累是一种罕见的遗传性孤立性肌张力障碍，其表现为下列一种或多种肌张力障碍：颈部肌张力障碍与震颤，眼睑痉挛，眶下颌和咽喉肌张力障碍。肌张力障碍进展缓慢，可节段性进展。也可出现手臂或颈部的震颤和肌阵挛性抽搐。"},"tr":{"name":"Laringeal ve üst ekstremite tutulumu ile seyreden kraniyo-servikal distoni","synonyms":["DYT24","Distoni 24"]}},"xrefs":[{"source":"OMIM","code":"615034","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014019","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554374","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1866,"name":"Focal, segmental or multifocal dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ANO3","name":"anoctamin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23200863[PMID]","hgnc":"14004","ensembl":"ENSG00000134343","omim":"610110","loci":["11p14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-14","source":"11009204[PMID]_23200863[PMID]","terms":[{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012477","label":"Vocal tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001600","label":"Abnormality of the larynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007351","label":"Upper limb postural tremor","frequency":"Occasional (29-5%)","criteria":null}]}}