{"Name":"Spinocerebellar ataxia 9","DiseaseID__c":"GARD:0010481","id":10481,"encodedName":"spinocerebellar-ataxia-9","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia 9","Xref_IDs__c":"C3887996; DOID:0111747; MEDGEN:854704; MONDO:0013029; OMIM:612876","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C3887996","Disease_Description__c":"The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur.","GARD_Name__c":"Spinocerebellar ataxia 9","GARD_Synonym__c":"cerebellar ataxia type 9; sca9; spinocerebellar ataxia type 9","Curated_Disease_Description_Source__c":"MEDGEN:C3887996","Curated_Disease_Description__c":"This rare neurological disease is one of several hereditary ataxias, a group of genetic diseases that cause slowly worsening problems with balance and coordination. People with this type of disease often have an unsteady walk and may gradually lose the ability to walk smoothly over time. They can also have poor coordination of the hands, making tasks like writing or buttoning clothes difficult, and may have slurred or unclear speech. Eye movements can become jerky or poorly controlled, and many people develop shrinking (atrophy) of the cerebellum, the part of the brain that coordinates movement.","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 Entity","MONDO_ID__c":"MONDO:0013029","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":"This rare neurological disease is one of several hereditary ataxias, a group of genetic diseases that cause slowly worsening problems with balance and coordination. People with this type of disease often have an unsteady walk and may gradually lose the ability to walk smoothly over time. They can also have poor coordination of the hands, making tasks like writing or buttoning clothes difficult, and may have slurred or unclear speech. Eye movements can become jerky or poorly controlled, and many people develop shrinking (atrophy) of the cerebellum, the part of the brain that coordinates movement.","Curated_Disease_Description_Source__c":"MEDGEN:C3887996","GARD_Synonym__c":"cerebellar ataxia type 9; sca9; spinocerebellar ataxia type 9","Name":"Spinocerebellar ataxia 9","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Ataxia UK","Website__c":"https://www.ataxia.org.uk/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3887996"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/612876","Source__c":"C3887996; MONDO:0013029","Xref__c":"OMIM:612876"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=854704","Source__c":"C3887996","Xref__c":"MEDGEN:854704"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3887996","Source__c":"C3887996","Xref__c":"C3887996"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111747","Source__c":"MONDO:0013029","Xref__c":"DOID:0111747"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013029","Source__c":"GARD:0010481","Xref__c":"MONDO:0013029"}],"Inheritance__c":["Autosomal dominant"],"tags":{},"synonyms":["cerebellar ataxia type 9"," sca9"," spinocerebellar ataxia type 9"]}