{"orpha":98806,"name":"Primary dystonia, DYT6 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT6","Generalized cervical and upper-limb-onset dystonia","Idiopathic torsion dystonia of mixed type"],"definition":"A rare genetic movement disorder characterized by dystonia affecting at first an upper limb, less frequently beginning in the head and neck region, before slowly spreading to other locations. The clinical spectrum, like age of onset, is variable with focal, segmental, or generalized distribution, but cranial involvement with speech difficulties and cervical involvement are typical, whereas lower limbs are often spared. With progression of the disease, many patients suffer from generalized dystonia while mostly remaining ambulatory.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98806/","orphanet_url":"https://www.orpha.net/en/disease/detail/98806","names":{"fr":{"name":"Dystonie primaire type DYT6","synonyms":["DYT6","Dystonie de torsion idiopathique mixte","Dystonie généralisée débutant au niveau des cervicales et des membres supérieurs"],"definition":"Anomalie du mouvement rare, de cause génétique, caractérisée par une dystonie touchant dans un premier temps les membres supérieurs ou qui débute moins fréquemment par la tête et le cou, avant de s'étendre progressivement à d'autres parties du corps. Le spectre clinique, ainsi que l'âge d'apparition, sont très variables et la distribution peut être focale, segmentaire ou généralisée. Une dystonie crânienne, se traduisant par des troubles d'élocution, et une dystonie cervicale sont typiques, les membres inférieurs étant souvent épargnés. Chez de nombreux patients, la maladie progresse vers une forme généralisée, mais la plupart parviennent à maintenir une déambulation autonome."},"de":{"name":"Dystonie, primäre, Typ DYT6","synonyms":["DYT6","Generalisierte zervikale Dystonie mit überwiegendem Beginn in den oberen Extremitäten","Torsionsdystonie, idiopathische, gemischter Typ"],"definition":"Eine seltene genetisch bedingte Bewegungsstörung, die durch eine Dystonie gekennzeichnet ist, die zunächst die oberen Gliedmaßen betrifft, seltener im Kopf- und Halsbereich beginnt und sich dann langsam auf andere Bereiche ausbreitet. Das klinische Spektrum ist ebenso wie das Alter des Ausbruchs variabel, mit fokaler, segmentaler oder generalisierter Verteilung, wobei eine kraniale Beteiligung mit Sprachstörungen und eine Beteiligung der Halswirbelsäule typisch sind, während die unteren Gliedmaßen oft verschont bleiben. Mit dem Fortschreiten der Krankheit leiden viele Patienten an einer generalisierten Dystonie, bleiben aber meist gehfähig."},"es":{"name":"Distonía primaria tipo DYT6","synonyms":["DYT6","Distonía de torsión idiopática tipo mixto","Distonía generalizada de aparición cervical y en extremidades superiores"],"definition":"Es un trastorno genético poco frecuente del movimiento caracterizado por distonía que afecta inicialmente a una extremidad superior y, con menor frecuencia, a la región de la cabeza y del cuello, antes de extenderse lentamente a otras localizaciones. Tanto el espectro clínico como la edad de aparición son variables, con una distribución focal, segmentaria o generalizada, aunque la afectación craneal con dificultades del habla y la afectación cervical son habituales, mientras que las extremidades inferiores suelen estar preservadas. Con la progresión de la enfermedad, muchos pacientes sufren de distonía generalizada mientras permanecen en su mayoría ambulatorios."},"it":{"name":"Distonia primitiva tipo DYT6","synonyms":["DYT6","Distonia generalizzata a esordio negli arti superiori e a livello cervicale","Distonia idiopatica di torsione, tipo \"misto\"","Distonia idiopatica di torsione, tipo misto"],"definition":"Si tratta di un disturbo genetico raro del movimento, caratterizzato dalla distonia che inizialmente interessa un arto superiore (raramente la regione della testa e del collo) per poi diffondersi lentamente ad altre aree. Il quadro clinico e l'età d'esordio sono variabili; la distribuzione è focale, segmentale o generalizzata. È comune l'interessamento del cranio con difficoltà del linguaggio e un coinvolgimento cervicale, mentre gli arti inferiori spesso sono risparmiati. Con la progressione della malattia, molti pazienti sviluppano una distonia generalizzata, ma preservano la deambulazione."},"nl":{"name":"Primaire dystonie, DYT6-type","synonyms":["DYT6","Gegeneraliseerde dystonie met aanvang in de nek en bovenste ledematen","Idiopathische torsiedystonie van het gemengde type"],"definition":"Een zeldzame, genetische bewegingsstoornis, gekarakteriseerd door dystonie die eerst een bovenste ledemaat aantast of, minder frequent, begint ter hoogte van hoofd en nek, alvorens traag te verspreiden naar andere locaties. Net als de aanvangsleeftijd is het klinische spectrum variabel, met focale, segmentale of gegeneraliseerde distributie, maar betrokkenheid van hoofd met spraakproblemen en betrokkenheid van nek zijn typisch, terwijl onderste ledematen vaak bespaard blijven. Naarmate de ziekte vordert lijden veel patiënten aan gegeneraliseerde dystonie, terwijl ze hun zelfstandig loopvermogen grotendeels behouden."},"pt":{"name":"Distonia idiopática de torção do tipo misto de início no adulto"},"pl":{"name":"Dystonia pierwotna, typ DYT6","synonyms":["Dystonia uogólniona rozpoczynająca się od szyi i kończyn górnych","DYT6","Idiopatyczna dystonia torsyjna typu mieszanego"]},"cs":{"name":"Primární dystonie, typ DYT6","synonyms":["DYT6"]},"uk":{"name":"Первинна дистонія, тип DYT6","synonyms":["DYT6","Генералізована шийна дистонія та дистонія верхніх кінцівок","Ідіопатична торсійна дистонія змішаного типу"],"definition":"A rare genetic movement disorder characterized by dystonia affecting at first an upper limb, less frequently beginning in the head and neck region, before slowly spreading to other locations. The clinical spectrum, like age of onset, is variable with focal, segmental, or generalized distribution, but cranial involvement with speech difficulties and cervical involvement are typical, whereas lower limbs are often spared. With progression of the disease, many patients suffer from generalized dystonia while mostly remaining ambulatory."},"zh":{"name":"原发性肌张力障碍DYT6型","synonyms":["广泛性颈和上肢发作性肌张力障碍"],"definition":"一种罕见的遗传性运动障碍，特征是肌张力障碍，最初影响上肢，较少开始于头部和颈部，然后慢慢扩散到其他部位。临床表现，如发病年龄，随局灶性、节段性或全身性分布而变化，典型症状有颅脑受累伴言语障碍和颈椎受累，下肢通常不受累。随着疾病的发展，许多患者患有全身性肌张力障碍，但大多仍可活动。"},"tr":{"name":"Primer distoni, DYT6 tipi","synonyms":["DYT6","Karma tipte idiyopatik torsiyon distonisi","Jeneralize servikal ve üst ekstremite başlangıçlı distoni"]}},"xrefs":[{"source":"OMIM","code":"602629","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":"1275500538"},{"source":"MONDO","code":"0011264","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538003","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1414216","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9630","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":376724,"name":"Generalized isolated dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"THAP1","name":"THAP domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301334[PMID]","hgnc":"20856","ensembl":"ENSG00000131931","omim":"609520","loci":["8p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19345147[PMID]_21110056[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":53.0,"area":"Worldwide","status":"Validated","source":"19345147[PMID]_21110056[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-23","source":"17702011[PMID]_21110056[PMID]","terms":[{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012179","label":"Craniofacial dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031008","label":"Lingual dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Very rare (<4-1%)","criteria":null}]}}