{"orpha":464440,"name":"Primary dystonia, DYT27 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464440/","orphanet_url":"https://www.orpha.net/en/disease/detail/464440","names":{"fr":{"name":"Dystonie primaire type DYT27","definition":"Dystonie génétique rare caractérisée par une dystonie focale ou segmentaire isolée affectant le visage, le cou, les membres supérieurs (dystonie focale de la main) le larynx ou le tronc, et se manifestant de l'enfance au début de l'âge adulte. La dystonie peut être de forme tremblante, donnant lieu à un tremblement de la tête ou des mains. Le mode de transmission est autosomique récessif."},"de":{"name":"Dystonie, primäre, Typ DYT27","definition":"Eine seltene genetisch bedingte Dystonie, die durch fokale oder segmentale isolierte Dystonien gekennzeichnet ist, die das Gesicht, den Hals, die oberen Gliedmaßen (häufig Schreibdystonie), den Kehlkopf oder den Rumpf betreffen und in der Kindheit oder im frühen Erwachsenenalter auftreten. Die Dystonie kann tremolierend sein und zu einem Kopf- oder Handtremor führen. Der Vererbungsmodus ist autosomal-rezessiv."},"es":{"name":"Distonía primaria tipo DYT27","definition":"Es una distonía de origen genético y poco frecuente caracterizada por una distonía aislada segmentaria o focal, afectando a la cara, el cuello, las extremidades superiores (frecuentemente distonía del escribiente), la laringe o el tronco, de inicio entre la infancia y la edad adulta temprana. La distonía puede ser trémula, dando lugar a temblores en la cabeza o en las manos. El modo de herencia es autosómico recesivo."},"it":{"name":"Distonia primitiva tipo DYT27","definition":"Si tratta di una distonia genetica rara, che esordisce tra l'infanzia e la prima età adulta con distonia isolata focale o segmentale, che interessa il viso, il collo, gli arti superiori (di solito distonia associata alla scrittura), la laringe o il tronco. La distonia può associarsi a tremori, in particolare della testa e della mano. La trasmissione è autosomica recessiva."},"nl":{"name":"Primaire dystonie, DYT27-type","definition":"Een zeldzame, genetische dystonie, gekarakteriseerd door focale of segmentale geïsoleerde dystonie met betrokkenheid van aangezicht, nek, bovenste ledematen (doorgaans schrijfkramp), larynx, of romp, met aanvang vanaf de kindertijd tot vroege volwassenheid. Dystonie kan trillend zijn, wat leidt tot tremor van hoofd of hand. Overerving gebeurt autosomaal recessief."},"pt":{"name":"Distonia primária, tipo DYT27"},"pl":{"name":"Dystonia pierwotna, typ DYT27"},"cs":{"name":"Primární dystonie, typ DYT27"},"uk":{"name":"Первинна дистонія, тип DYT27","definition":"A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive."},"zh":{"name":"DYT27型原发性张力障碍","definition":"一种罕见的遗传性肌张力障碍，以局灶性或节段性孤立性肌张力障碍为特征，累及面、颈、上肢（常见书写性肌张力障碍）、喉部或躯干，从儿童期至成年早期发病。肌张力障碍可引起头或手的震颤。遗传方式为常染色体隐性遗传。"},"tr":{"name":"Primer distoni, DYT27 tipi"}},"xrefs":[{"source":"OMIM","code":"616411","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225336","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":"COL6A3","name":"collagen type VI alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26004199[PMID]","hgnc":"2213","ensembl":"ENSG00000163359","omim":"120250","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"26260724[PMID]_26004199[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26260724[PMID]_26004199[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-29","source":"26004199[PMID]","terms":[{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002530","label":"Axial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007351","label":"Upper limb postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002356","label":"Writer's cramp","frequency":"Frequent (79-30%)","criteria":null}]}}