{"Name":"Spinocerebellar ataxia type 30","DiseaseID__c":"GARD:0004950","id":4950,"encodedName":"spinocerebellar-ataxia-type-30","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia type 30","Xref_IDs__c":"719253007; C2936793; C575214; DOID:0050979; MEDGEN:424821; MONDO:0013241; OMIM:613371; ORPHA:211017","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013241","Disease_Description__c":"An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.","GARD_Name__c":"Spinocerebellar ataxia type 30","GARD_Synonym__c":"sca30","Curated_Disease_Description_Source__c":"MONDO:0013241","Curated_Disease_Description__c":"An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:211017","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013241","ORPHANET_ID__c":"ORPHA:211017","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebolosa tipo 30","Spanish_Description_Source__c":"ORPHA:211017","Spanish_Description__c":"Es una ataxia cerebelosa autosómica dominante de tipo III caracterizada por ataxia relativamente pura y de progresión lenta.","Spanish_Disease_Name__c":"ataxia espinocerebolosa tipo 30","Spanish_GARD_Synonym__c":"sca30","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":"An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.","Curated_Disease_Description_Source__c":"MONDO:0013241","GARD_Synonym__c":"sca30","Name":"Spinocerebellar ataxia type 30","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:211017"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:211017"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861732"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/211017","Source__c":"C2936793; MONDO:0013241; ORPHA:211017","Xref__c":"ORPHA:211017"},{"URL__c":"https://www.omim.org/entry/613371","Source__c":"C2936793; MONDO:0013241; ORPHA:211017","Xref__c":"OMIM:613371"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2936793","Source__c":"C2936793","Xref__c":"C2936793"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050979","Source__c":"MONDO:0013241","Xref__c":"DOID:0050979"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=424821","Source__c":"C2936793","Xref__c":"MEDGEN:424821"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719253007","Source__c":"C2936793; MONDO:0013241","Xref__c":"719253007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C575214","Source__c":"MONDO:0013241","Xref__c":"C575214"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013241","Source__c":"GARD:0004950","Xref__c":"MONDO:0013241"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:211017","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:211017","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of ataxia that affects movements of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002070","HPO_Synonym__c":"Appendicular ataxia","HPO_Name__c":"Limb ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:211017","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:211017","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nystagmus made apparent by looking to the right or to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000640","HPO_Name__c":"Gaze-evoked nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:211017","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002395","HPO_Synonym__c":"Brisk lower extremity reflexes; Hyperreflexia in lower limbs; Hyperreflexia in the lower limbs; Increased deep tendon reflexes in the lower limbs; Leg hyperreflexia; Overactive lower leg reflex","HPO_Name__c":"Lower limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:211017","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wasting (atrophy) of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006855","HPO_Synonym__c":"Atrophy of cerebellar vermis; Atrophy of the cerebellar vermis; Vermian atrophy","HPO_Name__c":"Cerebellar vermis atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"],"Account":["Ataxia"]},"synonyms":["sca30"]}