{"Name":"Blepharospasm-oromandibular dystonia syndrome","DiseaseID__c":"GARD:0007008","id":7008,"encodedName":"blepharospasm-oromandibular-dystonia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Blepharospasm-oromandibular dystonia syndrome","Xref_IDs__c":"230325003; C0025183; D008538; DOID:3982; MEDGEN:44341; MONDO:0019772; ORPHA:93964","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019772","Disease_Description__c":"A focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.","GARD_Name__c":"Blepharospasm-oromandibular dystonia syndrome","GARD_Synonym__c":"blepharospasm - oromandibular dystonia; brueghel syndrome; meige dystonia; meige syndrome","Curated_Disease_Description_Source__c":"GARD:0007008","Curated_Disease_Description__c":"Blepharospasm-oromandibular dystonia syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. Symptoms and severity can vary. The exact cause of Blepharospasm-oromandibular dystonia syndrome is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:93964","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019772","ORPHANET_ID__c":"ORPHA:93964","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de blefarospasmo-distonía oromandibular","Spanish_Description_Source__c":"ORPHA:93964","Spanish_Description__c":"Es una distonía focal que asocia blefaroespasmo esencial benigno (BEB) simétrico con distonía oromandibular.","Spanish_Disease_Name__c":"síndrome de blefarospasmo-distonía oromandibular","Spanish_GARD_Synonym__c":"síndrome de meige","Category_Linearization__c":"ORPHA:98006","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":"Blepharospasm-oromandibular dystonia syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. Symptoms and severity can vary. The exact cause of Blepharospasm-oromandibular dystonia syndrome is unknown.","Curated_Disease_Description_Source__c":"GARD:0007008","GARD_Synonym__c":"blepharospasm - oromandibular dystonia; brueghel syndrome; meige dystonia; meige syndrome","Name":"Blepharospasm-oromandibular dystonia syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"New Zealand Dystonia Patient Network","Website__c":"https://www.dystonia.org.nz/"},{"Account_Name__c":"Beat Dystonia","Website__c":"https://beatdystonianonprofit.wordpress.com/"},{"Account_Name__c":"Dystonia Europe","Website__c":"https://dystonia-europe.org/about-us/"},{"Account_Name__c":"Dystonia Ireland","Website__c":"https://www.dystonia.ie/"},{"Account_Name__c":"Dystonia Medical Research Foundation Canada","Website__c":"https://dystoniacanada.org/"},{"Account_Name__c":"Dystonia Network of Australia","Website__c":"https://dystonia.org.au/"},{"Account_Name__c":"Tyler's Hope for a Dystonia Cure","Website__c":"https://www.tylershope.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación de Lucha contra la Distonía en España","Website__c":"https://distonia.es/"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"Benign Essential Blepharospasm Research Foundation","Website__c":"https://www.blepharospasm.org"},{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:93964"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:93964"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0025183","Source__c":"C0025183","Xref__c":"C0025183"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008538","Source__c":"C0025183; MONDO:0019772","Xref__c":"D008538"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44341","Source__c":"C0025183","Xref__c":"MEDGEN:44341"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230325003","Source__c":"C0025183; MONDO:0019772","Xref__c":"230325003"},{"URL__c":"https://www.orpha.net/en/disease/detail/93964","Source__c":"C0025183; MONDO:0019772; ORPHA:93964","Xref__c":"ORPHA:93964"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3982","Source__c":"MONDO:0019772","Xref__c":"DOID:3982"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019772","Source__c":"GARD:0007008","Xref__c":"MONDO:0019772"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology"],"Account":["Dystonia"]},"synonyms":["blepharospasm - oromandibular dystonia"," brueghel syndrome"," meige dystonia"," meige syndrome"],"spanishId":13653,"spanishName":"sindrome-de-meige"}