{"orpha":93958,"name":"Oromandibular dystonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93958/","orphanet_url":"https://www.orpha.net/en/disease/detail/93958","names":{"fr":{"name":"Dystonie oromandibulaire","definition":"Forme de dystonie focale affectant la partie inférieure du visage et les mâchoires. Elle se caractérise par des mouvements involontaires soutenus ou répétitifs de la mâchoire et de la langue, ainsi que par des grimaces faciales causées par des spasmes involontaires des muscles masticateurs, faciaux, pharyngés, linguaux et labiaux."},"de":{"name":"Dystonie, oromandibuläre"},"es":{"name":"Distonía oromandibular","definition":"Es una forma de distonía focal que afecta a la parte inferior de la cara y de la mandíbula. Está caracterizada por movimientos involuntarios sostenidos o repetitivos de la mandíbula y la lengua, así como por muecas faciales causadas por espasmos involuntarios de los músculos masticadores, faciales, faríngeos, linguales y labiales."},"it":{"name":"Distonia oromandibolare"},"nl":{"name":"Oromandibulaire dystonie","definition":"Een vorm van focale dystonie die het onderste deel van het gelaat en de kaken treft. De ziekte wordt gekarakteriseerd door aanhoudende of herhaaldelijke onvrijwillige bewegingen van kaak en tong, en door vertrekken van het aangezicht als gevolg van onvrijwillige stuiptrekkingen van kauw-, aangezichts-, farynx-, tong-, en lipspieren."},"pt":{"name":"Distonia oromandibular"},"pl":{"name":"Dystonia ustno-żuchwowa"},"cs":{"name":"Oromandibulární dystonie"},"uk":{"name":"Оромандибулярна дистонія","definition":"A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles."},"zh":{"name":"口下颌肌张力障碍","definition":"一种影响面下部和颌部的局灶性肌张力障碍，其特点是持续或反复的下颌和舌头不自主运动，以及由咀嚼肌、面肌、咽肌、舌肌和唇部肌肉非自主痉挛引起的面部皱纹。"},"tr":{"name":"Oromandibular distoni"}},"xrefs":[{"source":"ICD-10","code":"G24.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8A02.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"749381409"},{"source":"MONDO","code":"0019771","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2242577","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067954","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-12","source":"28620630[PMID]_29860784[PMID]","terms":[{"hpo":"HP:0000277","label":"Abnormality of the mandible","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010754","label":"Abnormality of the temporomandibular joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000159","label":"Abnormal lip morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","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:0001260","label":"Dysarthria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very rare (<4-1%)","criteria":null}]}}