{"Name":"Spinocerebellar ataxia type 5","DiseaseID__c":"GARD:0004953","id":4953,"encodedName":"spinocerebellar-ataxia-type-5","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia type 5","Xref_IDs__c":"719302009; C0752123; DOID:0050882; MEDGEN:155705; MONDO:0010848; OMIM:600224; ORPHA:98766","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0010848","Disease_Description__c":"An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.","GARD_Name__c":"Spinocerebellar ataxia type 5","GARD_Synonym__c":"sca5","Curated_Disease_Description_Source__c":"GARD:0004953","Curated_Disease_Description__c":"Spinocerebellar ataxia 5 (SCA5) is one of the many spinocerebellar ataxias, which are inherited conditions that cause degeneration of the spinal cord and cerebellum. SCA5 almost exclusively affects the cerebellum. It is considered to be a mild form that progresses slowly. Signs and symptoms may include loss of coordination of the hands, arms, and legs; impaired balance when walking; and slurred speech (dysarthria). SCA5 is caused by genetic changes in the SPTBN2 gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:98766","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010848","ORPHANET_ID__c":"ORPHA:98766","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa tipo 5","Spanish_Description_Source__c":"ORPHA:98766","Spanish_Description__c":"Es una ataxia cerebelosa autosómica dominante de tipo III caracterizada por el inicio temprano de signos cerebelosos con anomalías de los movimientos oculares y una progresión muy lenta de la enfermedad.","Spanish_Disease_Name__c":"ataxia espinocerebelosa tipo 5","Spanish_GARD_Synonym__c":"sca5","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 5 (SCA5) is one of the many spinocerebellar ataxias, which are inherited conditions that cause degeneration of the spinal cord and cerebellum. SCA5 almost exclusively affects the cerebellum. It is considered to be a mild form that progresses slowly. Signs and symptoms may include loss of coordination of the hands, arms, and legs; impaired balance when walking; and slurred speech (dysarthria). SCA5 is caused by genetic changes in the SPTBN2 gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0004953","GARD_Synonym__c":"sca5","Name":"Spinocerebellar ataxia type 5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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/"}],"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":"Childhood","Provided_By__c":"ORPHA:98766"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:98766"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98766"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98766"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0752123"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004953","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719302009","Source__c":"C0752123; MONDO:0010848","Xref__c":"719302009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050882","Source__c":"MONDO:0010848","Xref__c":"DOID:0050882"},{"URL__c":"https://www.orpha.net/en/disease/detail/98766","Source__c":"C0752123; MONDO:0010848; ORPHA:98766","Xref__c":"ORPHA:98766"},{"URL__c":"https://www.omim.org/entry/600224","Source__c":"C0752123; MONDO:0010848; ORPHA:98766","Xref__c":"OMIM:600224"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=155705","Source__c":"C0752123","Xref__c":"MEDGEN:155705"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0752123","Source__c":"C0752123","Xref__c":"C0752123"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010848","Source__c":"GARD:0004953","Xref__c":"MONDO:0010848"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPTBN2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98766","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98766","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal coordination of muscles involved in speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001350","HPO_Synonym__c":"Slurred speech","HPO_Name__c":"Slurred speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98766","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98766","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002311","HPO_Synonym__c":"Difficulties in coordination; Incoordination; Incoordination of limb movements; Limb incoordination; Poor coordination; Poor motor coordination","HPO_Name__c":"Incoordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Pediatrics"],"Account":["Ataxia"]},"synonyms":["sca5"]}