{"orpha":98807,"name":"Primary dystonia, DYT13 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT13","Primary dystonia with mixed phenotype","Primary torsion dystonia with predominant craniocervical or upper limb onset"],"definition":"A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98807/","orphanet_url":"https://www.orpha.net/en/disease/detail/98807","names":{"fr":{"name":"Dystonie primaire type DYT13","synonyms":["DYT13","Dystonie primaire à début cranio-cervical ou par les membres supérieurs","Dystonie primaire à phénotype mixte"],"definition":"Dystonie de torsion primaire rare caractérisée par une dystonie focale ou segmentaire touchant la tête, le cou ou les membres supérieurs. L'apparition de la pathologie varie entre l'âge de 5 ans à l'âge adulte (avec un âge moyen de début à 16 ans). Les signes cliniques sont habituellement légers et lentement progressifs."},"de":{"name":"Dystonie, primäre, Typ DYT13","synonyms":["DYT13","Primäre Dystonie mit gemischtem Phänotyp","Primäre Torsions-Dystonie mit überwiegendem Beginn im kraniozervikalen Bereich oder in den Armen"],"definition":"Der Typ DYT13 der primären Dystonie ist gekennzeichnet durch fokale oder segmentale Dystonie mit Beteiligung von Kopf, Hals und oberen Gliedmaßen."},"es":{"name":"Distonía primaria tipo DYT13","synonyms":["Distonía primaria con fenotipo mixto"],"definition":"Es una distonía de torsión primaria poco frecuente caracterizada por una distonía focal o segmentaria con inicio en la región cráneo-cervical o en las extremidades superiores. La edad de debut varía entre los 5 años y la edad adulta, con una edad media de debut de 16 años. Las manifestaciones clínicas son generalmente leves y de progresión lenta."},"it":{"name":"Distonia primaria, tipo DYT13","synonyms":["DYT13","Distonia primaria con fenotipo misto","Distonia primaria di torsione a esordio prevalentemente craniocervicale o nell'arto superiore","Distonia primaria segmentale craniocervicale a esordio precoce"]},"nl":{"name":"Primaire dystonie, DYT13-type","synonyms":["DYT13","Primaire dystonie met gemengd fenotype","Primaire torsiedystonie met voornamelijk craniocervicale of bovenste ledematen-aanvang"],"definition":"Een zeldzame primaire torsiedystonie, gekenmerkt door focale of segmentale dystonie met aanvang in craniaal-cervicaal gebied of in bovenste ledematen. De aanvangsleeftijd varieert tussen 5 jaar en volwassenheid, met een gemiddelde aanvangsleeftijd van 16 jaar. Klinische manifestaties zijn doorgaans mild en traag progressief."},"pt":{"name":"Distonia de torção primária segmentar craniocervical de início precoce","definition":"A distonia primária tipo DYT13 é caracterizada por distonia focal ou segmentar, com envolvimento craniano, cervical ou dos membros superiores."},"pl":{"name":"Dystonia pierwotna, typ DYT13","synonyms":["DYT13","Primary dystonia with mixed phenotype","Primary torsion dystonia with predominant craniocervical or upper limb onset"]},"cs":{"name":"Primární dystonie, typ DYT13","synonyms":["DYT13","Primární dystonie se smíšeným fenotypem","Primární torzní dystonie s predominantním nástupem kraniocervikálním nebo na horní končetině"]},"uk":{"name":"Первинна дистонія, тип DYT13","synonyms":["DYT13","Первинна дистонія зі змішаним фенотипом","Первинна торсійна дистонія з переважним ураженням краніо-цервікального відділу або верхніх кінцівок"],"definition":"A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive."},"zh":{"name":"原发性肌张力障碍DYT13型","synonyms":["主要为颅颈或上肢发作的原发性扭转肌张力障碍"],"definition":"一种罕见的原发性扭转肌张力障碍，以局灶性或节段性肌张力障碍为特征，起病于头颈部或上肢。发病年龄从5岁到成年不等，平均发病年龄为16岁。临床表现一般较轻，进展缓慢。"},"tr":{"name":"Primer distoni, DYT13 tipi","synonyms":["DYT13","Karma fenotipli primer distoni","Baskın kraniyoservikal veya üst ekstremite başlangıcı ile seyreden primer torsiyon distonisi"]}},"xrefs":[{"source":"OMIM","code":"607671","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2073409160"},{"source":"MONDO","code":"0011886","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843264","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":"DYT13","name":"dystonia 13, torsion","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11261511[PMID]","hgnc":"3101","ensembl":null,"omim":null,"loci":["1p36"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9120448[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"9120448[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-04","source":"9120448[PMID]","terms":[{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001304","label":"Torsion dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012179","label":"Craniofacial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006961","label":"Jerky head movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very rare (<4-1%)","criteria":null}]}}