{"Name":"Spinocerebellar ataxia 27A","DiseaseID__c":"GARD:0009603","id":9603,"encodedName":"spinocerebellar-ataxia-27a","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia 27A","Xref_IDs__c":"C537856; CN031884; MEDGEN:1841553; MONDO:0008654","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Spinocerebellar ataxia 27A","GARD_Synonym__c":"nys4; nystagmus 4, congenital, autosomal dominant; vestibulocerebellar disorder with predominant ocular signs","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"This rare inherited brain disorder follows an autosomal dominant pattern, which means a person can be affected if they inherit the changed gene from one parent. It mainly affects the cerebellum, the part of the brain that controls balance and coordination. People with this disease may have unsteady walking, balance problems, shaking (tremor), slurred or slow speech, and rapid, jerky eye movements called gaze-evoked nystagmus. The age at which symptoms begin can vary widely. Some people develop nystagmus or delayed motor milestones in infancy, while others first notice tremor or walking problems as adults. The disease usually worsens slowly over time, and in some people the balance problems can be very mild or not obvious. Brain scans may or may not show shrinkage of the cerebellum. Many individuals have mild developmental delay and some level of learning or intellectual difficulties. Symptoms can flare up with fever, emotional stress, or exercise and may be linked with mood changes, outbursts, depression, or other behavioral and mental health issues. Even within the same family, people can have very different combinations and severities of neurologic symptoms.","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:0008654","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 inherited brain disorder follows an autosomal dominant pattern, which means a person can be affected if they inherit the changed gene from one parent. It mainly affects the cerebellum, the part of the brain that controls balance and coordination. People with this disease may have unsteady walking, balance problems, shaking (tremor), slurred or slow speech, and rapid, jerky eye movements called gaze-evoked nystagmus. The age at which symptoms begin can vary widely. Some people develop nystagmus or delayed motor milestones in infancy, while others first notice tremor or walking problems as adults. The disease usually worsens slowly over time, and in some people the balance problems can be very mild or not obvious. Brain scans may or may not show shrinkage of the cerebellum. Many individuals have mild developmental delay and some level of learning or intellectual difficulties. Symptoms can flare up with fever, emotional stress, or exercise and may be linked with mood changes, outbursts, depression, or other behavioral and mental health issues. Even within the same family, people can have very different combinations and severities of neurologic symptoms.","GARD_Synonym__c":"nys4; nystagmus 4, congenital, autosomal dominant; vestibulocerebellar disorder with predominant ocular signs","Name":"Spinocerebellar ataxia 27A","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"American Nystagmus Network","Website__c":"https://nystagmus.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537856","Source__c":"MONDO:0008654","Xref__c":"C537856"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008654","Source__c":"GARD:0009603","Xref__c":"MONDO:0008654"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN031884","Source__c":"CN031884","Xref__c":"CN031884"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1841553","Source__c":"CN031884","Xref__c":"MEDGEN:1841553"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGF14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Neuro-Ophthalmology"]},"synonyms":["nys4"," nystagmus 4, congenital, autosomal dominant"," vestibulocerebellar disorder with predominant ocular signs"]}