{"Name":"Tolosa-Hunt syndrome","DiseaseID__c":"GARD:0007777","id":7777,"encodedName":"tolosa-hunt-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tolosa-Hunt syndrome","Xref_IDs__c":"95794005; C0040381; C85193; D020333; DOID:1278; MEDGEN:21197; MONDO:0018983; ORPHA:64686","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018983","Disease_Description__c":"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.","GARD_Name__c":"Tolosa-Hunt syndrome","GARD_Synonym__c":"painful ophthalmoplegia; tolosa hunt syndrome","Curated_Disease_Description_Source__c":"GARD:0007777","Curated_Disease_Description__c":"Tolosa Hunt syndrome (THS) is a rare condition characterized by painful ophthalmoplegia (paralysis and/or weakness of the eye muscles). Signs and symptoms include a constant pain behind the eye; decreased eye movements; and signs of cranial nerve paralysis such as drooping of the upper eyelid (ptosis), double vision (diplopia), large pupil, and facial numbness. Although it is considered a benign condition, permanent neurologic deficits can occur and relapses are common. The features of THS are caused by inflammation of the cavernous sinus (an area at the base of the brain) but the underlying cause of the inflammation is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:64686","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018983","ORPHANET_ID__c":"ORPHA:64686","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de tolosa-hunt","Spanish_Description_Source__c":"ORPHA:64686","Spanish_Description__c":"El síndrome de Tolosa-Hunt es un síndrome oftalmopléjico, caracterizado por ataques agudos (que duran desde unos pocos días a unas pocas semanas) de dolor periorbital, parálisis ipsilateral del nervio motor ocular, ptosis, movimientos oculares desordenados y visión borrosa normalmente causado por un proceso inflamatorio no específico en el seno cavernoso y la fisura orbital superior. Afecta a todos los grupos de edad. Tiene un curso impredecible con remisiones espontáneas en algunos casos y recurrencia de los ataques en otros.","Spanish_Disease_Name__c":"síndrome de tolosa-hunt","Spanish_GARD_Synonym__c":"oftalmoplejía dolorosa","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Tolosa Hunt syndrome (THS) is a rare condition characterized by painful ophthalmoplegia (paralysis and/or weakness of the eye muscles). Signs and symptoms include a constant pain behind the eye; decreased eye movements; and signs of cranial nerve paralysis such as drooping of the upper eyelid (ptosis), double vision (diplopia), large pupil, and facial numbness. Although it is considered a benign condition, permanent neurologic deficits can occur and relapses are common. The features of THS are caused by inflammation of the cavernous sinus (an area at the base of the brain) but the underlying cause of the inflammation is unknown.","Curated_Disease_Description_Source__c":"GARD:0007777","GARD_Synonym__c":"painful ophthalmoplegia; tolosa hunt syndrome","Name":"Tolosa-Hunt syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"National Headache Foundation","Website__c":"https://headaches.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:64686"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0040381","Source__c":"C0040381","Xref__c":"C0040381"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=95794005","Source__c":"C0040381; MONDO:0018983","Xref__c":"95794005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=21197","Source__c":"C0040381","Xref__c":"MEDGEN:21197"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1278","Source__c":"MONDO:0018983","Xref__c":"DOID:1278"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85193","Source__c":"C0040381; MONDO:0018983","Xref__c":"C85193"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020333","Source__c":"C0040381; MONDO:0018983","Xref__c":"D020333"},{"URL__c":"https://www.orpha.net/en/disease/detail/64686","Source__c":"C0040381; MONDO:0018983; ORPHA:64686","Xref__c":"ORPHA:64686"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018983","Source__c":"GARD:0007777","Xref__c":"MONDO:0018983"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["painful ophthalmoplegia"," tolosa hunt syndrome"]}