{"Name":"Progressive bulbar palsy","DiseaseID__c":"GARD:0010928","id":10928,"encodedName":"progressive-bulbar-palsy","IsDeleted":false,"Disease_Name_Full__c":"Progressive bulbar palsy","Xref_IDs__c":"423022281; 54304004; C0030442; C85026; D010244; DOID:681; G12.22; MEDGEN:18290; MONDO:0008890","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008890","Disease_Description__c":"Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.","GARD_Name__c":"Progressive bulbar palsy","GARD_Synonym__c":"bulbar palsy; bulbar paralysis; pbp - progressive bulbar palsy","Curated_Disease_Description_Source__c":"MEDGEN:C0030442","Curated_Disease_Description__c":"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008890","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)","Curated_Disease_Description_Source__c":"MEDGEN:C0030442","GARD_Synonym__c":"bulbar palsy; bulbar paralysis; pbp - progressive bulbar palsy","Name":"Progressive bulbar palsy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ALS Canada","Website__c":"https://www.als.ca"},{"Account_Name__c":"Muscular Dystrophy Association - ALS Division","Website__c":"https://www.mda.org/disease/amyotrophic-lateral-sclerosis"},{"Account_Name__c":"Motor Neurone Disease Association","Website__c":"https://www.mndassociation.org/"},{"Account_Name__c":"ALS Association","Website__c":"https://www.als.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A681","Source__c":"MONDO:0008890","Xref__c":"DOID:681"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0030442","Source__c":"C0030442","Xref__c":"C0030442"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010244","Source__c":"MONDO:0008890","Xref__c":"D010244"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54304004","Source__c":"C0030442; MONDO:0008890","Xref__c":"54304004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18290","Source__c":"C0030442","Xref__c":"MEDGEN:18290"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85026","Source__c":"C0030442; MONDO:0008890","Xref__c":"C85026"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G12.22","Source__c":"MONDO:0008890","Xref__c":"G12.22"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008890","Source__c":"GARD:0010928","Xref__c":"MONDO:0008890"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022281","Xref__c":"423022281"}],"tags":{"Specialist":["Neuromuscular medicine"]},"synonyms":["bulbar palsy"," bulbar paralysis"," pbp - progressive bulbar palsy"]}