{"Name":"Autosomal dominant cerebellar ataxia","DiseaseID__c":"GARD:0004346","id":4346,"encodedName":"autosomal-dominant-cerebellar-ataxia","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant cerebellar ataxia","Xref_IDs__c":"129609000; C4087347; DOID:1441; MEDGEN:1684639; MONDO:0020380; OMIMPS:164400; ORPHA:99","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020380","Disease_Description__c":"A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.","GARD_Name__c":"Autosomal dominant cerebellar ataxia","GARD_Synonym__c":"adca; autosomal dominant hereditary ataxia; autosomal dominant spinocerebellar ataxia; cerebellar ataxia, autosomal dominant; spinocerebellar ataxia, dominant","Curated_Disease_Description_Source__c":"GARD:0004346","Curated_Disease_Description__c":"Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait). Coordination of hands and clearness of speech (dysarthria) are also affected. The area of the brain controlling balance and movement decreases in size (cerebellar atrophy). This can be seen on brain imaging. ADCAs include the autosomal dominant spinocerebellar ataxias (SCAs), all of the episodic ataxias (EAs) and the one dominant type of spastic ataxia (SPAX1). Genetic changes or changes in many different genes are known to cause many of the different types of ADCA, but more genes are still being discovered. Inheritance is autosomal dominant . Diagnosis of ADCA is based on clinical history, physical examination, genetic testing, and ruling out other diseases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:99","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020380","ORPHANET_ID__c":"ORPHA:99","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia cerebelosa autosómica dominante","Spanish_Description_Source__c":"ORPHA:99","Spanish_Description__c":"Es un grupo clínica y genéticamente heterogéneo de enfermedades neurodegenerativas caracterizadas por ataxia de la marcha, postural y de las extremidades, de progresión lenta, disartria y/o trastorno oculomotor. Se deben a una degeneración cerebelosa en ausencia de enfermedades coexistentes. El proceso degenerativo puede estar limitado al cerebelo (ADCA tipo 3) o puede afectar adicionalmente a la retina (ADCA tipo 2), nervio óptico, vías bulbo-protuberanciales, ganglios basales, corteza cerebral, tractos espinales o nervios periféricos (ADCA tipo 1). En la ADCA tipo 4 (consulte este término), se asocia un síndrome cerebeloso con epilepsia.","Spanish_Disease_Name__c":"ataxia cerebelosa autosómica dominante","Spanish_GARD_Synonym__c":"ataxia espinocerebelosa autosómica dominante","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":"Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait). Coordination of hands and clearness of speech (dysarthria) are also affected. The area of the brain controlling balance and movement decreases in size (cerebellar atrophy). This can be seen on brain imaging. ADCAs include the autosomal dominant spinocerebellar ataxias (SCAs), all of the episodic ataxias (EAs) and the one dominant type of spastic ataxia (SPAX1). Genetic changes or changes in many different genes are known to cause many of the different types of ADCA, but more genes are still being discovered. Inheritance is autosomal dominant . Diagnosis of ADCA is based on clinical history, physical examination, genetic testing, and ruling out other diseases.","Curated_Disease_Description_Source__c":"GARD:0004346","GARD_Synonym__c":"adca; autosomal dominant hereditary ataxia; autosomal dominant spinocerebellar ataxia; cerebellar ataxia, autosomal dominant; spinocerebellar ataxia, dominant","Name":"Autosomal dominant cerebellar ataxia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.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":"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"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:99"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1684639","Source__c":"C4087347","Xref__c":"MEDGEN:1684639"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1441","Source__c":"MONDO:0020380","Xref__c":"DOID:1441"},{"URL__c":"https://www.orpha.net/en/disease/detail/99","Source__c":"C4087347; MONDO:0020380; ORPHA:99","Xref__c":"ORPHA:99"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4087347","Source__c":"C4087347","Xref__c":"C4087347"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS164400","Source__c":"MONDO:0020380","Xref__c":"OMIMPS:164400"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=129609000","Source__c":"MONDO:0020380","Xref__c":"129609000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020380","Source__c":"GARD:0004346","Xref__c":"MONDO:0020380"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Pediatrics"],"Account":["Ataxia"]},"synonyms":["adca"," autosomal dominant hereditary ataxia"," autosomal dominant spinocerebellar ataxia"," cerebellar ataxia, autosomal dominant"," spinocerebellar ataxia, dominant"]}