{"Name":"Spinocerebellar ataxia type 41","DiseaseID__c":"GARD:0017810","id":17810,"encodedName":"spinocerebellar-ataxia-type-41","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia type 41","Xref_IDs__c":"1208512000; C4225158; DOID:0111744; MEDGEN:908281; MONDO:0014626; OMIM:616410; ORPHA:458798","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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014626","Disease_Description__c":"Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.","GARD_Name__c":"Spinocerebellar ataxia type 41","GARD_Synonym__c":"sca41","Curated_Disease_Description_Source__c":"MONDO:0014626","Curated_Disease_Description__c":"Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:458798","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014626","ORPHANET_ID__c":"ORPHA:458798","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa tipo 41","Spanish_Description_Source__c":"ORPHA:458798","Spanish_Description__c":"Es una ataxia cerebelosa autosómica dominante tipo III poco frecuente caracterizada por inestabilidad progresiva de inicio en el adulto y pérdida de coordinación junto con marcha atáxica. También se ha descrito atrofia leve del vermis cerebeloso en imágenes de resonancia magnética cerebral.","Spanish_Disease_Name__c":"ataxia espinocerebelosa tipo 41","Spanish_GARD_Synonym__c":null,"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":"Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.","Curated_Disease_Description_Source__c":"MONDO:0014626","GARD_Synonym__c":"sca41","Name":"Spinocerebellar ataxia type 41","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:458798"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/616410","Source__c":"C4225158; MONDO:0014626; ORPHA:458798","Xref__c":"OMIM:616410"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225158","Source__c":"C4225158","Xref__c":"C4225158"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=908281","Source__c":"C4225158","Xref__c":"MEDGEN:908281"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111744","Source__c":"MONDO:0014626","Xref__c":"DOID:0111744"},{"URL__c":"https://www.orpha.net/en/disease/detail/458798","Source__c":"C4225158; MONDO:0014626; ORPHA:458798","Xref__c":"ORPHA:458798"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208512000","Source__c":"C4225158","Xref__c":"1208512000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014626","Source__c":"GARD:0017810","Xref__c":"MONDO:0014626"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPC3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:458798","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:458798","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:458798","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"],"Account":["Ataxia"]},"synonyms":["sca41"]}