{"orpha":1866,"name":"Focal, segmental or multifocal dystonia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1866/","orphanet_url":"https://www.orpha.net/en/disease/detail/1866","names":{"fr":{"name":"Dystonie focale, segmentaire ou multifocale","synonyms":["Dystonie localisée"],"definition":"Maladie neurologique rare du mouvement, caractérisée par des contractions musculaires soutenues d'une seule région du corps, entraînant généralement des mouvements répétitifs et des torsions ou des postures/positions anormales."},"de":{"name":"Fokale, segmentale oder multifokale Dystonie","definition":"Eine seltene neurologische Bewegungsstörung, die durch anhaltende Muskelkontraktionen in einer einzelnen Körperregion gekennzeichnet ist und in der Regel zu verdrehten und sich wiederholenden Bewegungen oder abnormalen Körperhaltungen oder -positionen führt."},"es":{"name":"Distonía focal, segmentaria o multifocal","definition":"Es un trastorno neurológico del movimiento poco frecuente caracterizado por contracciones musculares sostenidas de una única region anatómica que suelen producir movimientos de torción repetidos o posturas y posiciones anómalas."},"it":{"name":"Distonia focale, segmentale o multifocale"},"nl":{"name":"Focale, segmentale of multifocale dystonie","definition":"Een zeldzame neurologische bewegingsstoornis, gekenmerkt door aanhoudende spiercontracties in één enkel gebied van het lichaam, wat doorgaans leidt tot draaiende en repetitieve bewegingen of abnormale houdingen of standen van het lichaam."},"pt":{"name":"Distonia focal, segmentar ou multifocal"},"pl":{"name":"Dystonia ogniskowa, odcinkowa lub wieloogniskowa","definition":"Rzadkie neurologiczne zaburzenie ruchowe charakteryzujące się utrzymującymi się skurczami mięśni pojedynczego obszaru ciała, zwykle powodującymi powtarzające się ruchy skrętne lub nieprawidłową postawę lub pozycję."},"cs":{"name":"Fokální, segmentální nebo multifokální dystonie"},"uk":{"name":"Фокальна, сегментарна або мультифокальна дистонія","definition":"A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions."},"zh":{"name":"局灶性、节段性或多灶性肌张力障碍"},"tr":{"name":"Fokal, segmental veya multifokal distoni"}},"xrefs":[{"source":"MONDO","code":"0015990","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15990","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680914","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93955,"name":"OBSOLETE: Benign essential blepharospasm","status":"inactive"},{"type":"Referred to","orpha":93956,"name":"OBSOLETE: Truncal dystonia","status":"inactive"},{"type":"Referred to","orpha":93957,"name":"OBSOLETE: Limb dystonia","status":"inactive"},{"type":"Referred to","orpha":93961,"name":"OBSOLETE: Laryngeal dyskinesia","status":"inactive"},{"type":"Referred to","orpha":93962,"name":"OBSOLETE: Cervical dystonia","status":"inactive"},{"type":"Referred to","orpha":93963,"name":"OBSOLETE: Autosomal dominant focal dystonia, DYT7 type","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":156159,"name":"Isolated dystonia","classifications":[156,181]}],"children":[{"orpha":420492,"name":"Adult-onset cervical dystonia, DYT23 type","type":"Disease"},{"orpha":329466,"name":"Autosomal dominant focal dystonia, DYT25 type","type":"Disease"},{"orpha":93964,"name":"Blepharospasm-oromandibular dystonia syndrome","type":"Disease"},{"orpha":420485,"name":"Cranio-cervical dystonia with laryngeal and upper-limb involvement","type":"Disease"},{"orpha":494526,"name":"Infantile-onset generalized dyskinesia with orofacial involvement","type":"Disease"},{"orpha":93958,"name":"Oromandibular dystonia","type":"Disease"},{"orpha":98807,"name":"Primary dystonia, DYT13 type","type":"Disease"},{"orpha":370103,"name":"Primary dystonia, DYT17 type","type":"Disease"},{"orpha":99657,"name":"Primary dystonia, DYT2 type","type":"Disease"},{"orpha":464440,"name":"Primary dystonia, DYT27 type","type":"Disease"},{"orpha":98805,"name":"Primary dystonia, DYT4 type","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.7,"area":"Europe","status":"Not yet validated","source":"11127535[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.2,"area":"Serbia","status":"Validated","source":"14639690[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":31.2,"area":"Iceland","status":"Validated","source":"16211610[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":29.5,"area":"United States","status":"Validated","source":"3264051[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.7,"area":"Japan","status":"Validated","source":"16755586[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Egypt","status":"Validated","source":"7969703[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.3,"area":"Thailand","status":"Validated","source":"21999890[PMID]"}],"phenotypes":null}