{"Name":"Primary progressive aphasia","DiseaseID__c":"GARD:0008541","id":8541,"encodedName":"primary-progressive-aphasia","IsDeleted":false,"Disease_Name_Full__c":"Primary progressive aphasia","Xref_IDs__c":"423022485; C0282513; C85024; D018888; DOID:0081388; MEDGEN:79466; MONDO:0019806; ORPHA:95432","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019806","Disease_Description__c":"Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).","GARD_Name__c":"Primary progressive aphasia","GARD_Synonym__c":"mesulam syndrome; ppa","Curated_Disease_Description_Source__c":"GARD:0008541","Curated_Disease_Description__c":"Primary progressive aphasia (PPA) affects a person's ability to use language to communicate. This includes loss of ability to understand or express speech (aphasia). PPA is a specific type of a more general disease called frontotemporal dementia. PPA can be classified into three distinct types: progressive non-fluent aphasia (PNFA), semantic dementia (SD), and logopenic progressive aphasia (LPA). PPA is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. In some cases, this loss of tissue is caused by genetic changes (genetic changes or pathogenic variants) in the GRN gene. In these cases, the disease is inherited in an autosomal dominant manner. Diagnosis of PPA is suspected when a doctor observes signs and symptoms such as progressive loss of language abilities. Imaging of the brain can confirm the diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:95432","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019806","ORPHANET_ID__c":"ORPHA:95432","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Afasia progresiva primaria","Spanish_Description_Source__c":"ORPHA:95432","Spanish_Description__c":"La afasia progresiva primaria (APP) es un trastorno neurodegenerativo caracterizado por un deterioro primario del lenguaje, con relativa preservación de otras facultades mentales durante al menos los primeros 2 años de la enfermedad. La APP se reconoce como la variante del lenguaje en el espectro de trastornos de la demencia frontotemporal (DFT). La APP se puede clasificar en 3 subtipos o variantes según las características específicas del habla y el lenguaje: demencia semántica (APP-vs), afasia progresiva no fluente (APP-vnf) y afasia progresiva logopénica (APP-vl).","Spanish_Disease_Name__c":"afasia progresiva primaria","Spanish_GARD_Synonym__c":"app; síndrome de mesulam","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":"Primary progressive aphasia (PPA) affects a person's ability to use language to communicate. This includes loss of ability to understand or express speech (aphasia). PPA is a specific type of a more general disease called frontotemporal dementia. PPA can be classified into three distinct types: progressive non-fluent aphasia (PNFA), semantic dementia (SD), and logopenic progressive aphasia (LPA). PPA is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. In some cases, this loss of tissue is caused by genetic changes (genetic changes or pathogenic variants) in the GRN gene. In these cases, the disease is inherited in an autosomal dominant manner. Diagnosis of PPA is suspected when a doctor observes signs and symptoms such as progressive loss of language abilities. Imaging of the brain can confirm the diagnosis.","Curated_Disease_Description_Source__c":"GARD:0008541","GARD_Synonym__c":"mesulam syndrome; ppa","Name":"Primary progressive aphasia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Aphasia Association","Website__c":"https://www.aphasia.org/"},{"Account_Name__c":"The Association for Frontotemporal Degeneration","Website__c":"https://www.theaftd.org/"},{"Account_Name__c":"Aphasia Hope Foundation","Website__c":"https://aphasiahope.wpengine.com/"},{"Account_Name__c":"Aphasia Center of Maine","Website__c":"https://www.aphasiacenterofmaine.org/"}],"GARD_Disease_Tag__c":[{"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":"Psychiatry","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:95432"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=79466","Source__c":"C0282513","Xref__c":"MEDGEN:79466"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018888","Source__c":"C0282513; MONDO:0019806","Xref__c":"D018888"},{"URL__c":"https://www.orpha.net/en/disease/detail/95432","Source__c":"C0282513; MONDO:0019806; ORPHA:95432","Xref__c":"ORPHA:95432"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85024","Source__c":"C0282513; MONDO:0019806","Xref__c":"C85024"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081388","Source__c":"MONDO:0019806","Xref__c":"DOID:0081388"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0282513","Source__c":"C0282513","Xref__c":"C0282513"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019806","Source__c":"GARD:0008541","Xref__c":"MONDO:0019806"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022485","Xref__c":"423022485"}],"Inheritance__c":["Non-Mendelian inheritance"],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Psychiatry"]},"synonyms":["mesulam syndrome"," ppa"]}