{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.spinocerebellar-ataxia","code":"thing-q899726","url":"https://ver.cy/models/thing/q899726/","name":"spinocerebellar ataxia","alternateNames":["spinocerebellar ataxia type 1 with axonal neuropathy","spinocerebellar ataxia 49","primary cerebellar degeneration","sideroblastic anemia with spinocerebellar ataxia","spinocerebellar ataxia with epilepsy","spinocerebellar ataxia type 16","GRID2-related autosomal dominant spinocerebellar ataxia","hypomyelinating leukoencephalopathy","spinocerebellar ataxia 44","spinocerebellar ataxia 45","spinocerebellar ataxia 46","cerebellar ataxia type 9"],"kind":"thing","status":"published","version":"0.2.0-wave.4","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A group of inherited progressive neurodegenerative disorders affecting the cerebellum and often the spinal cord, causing worsening loss of coordination, balance, speech and eye movement control, most commonly autosomal dominant and classified by numbered types such as SCA1, SCA3 or Machado-Joseph disease and many rarer types including SCA16 and SCA49, with related rare conditions such as spinocerebellar ataxia with epilepsy, SCA1 with axonal neuropathy and X-linked sideroblastic anaemia with ataxia; primary cerebellar degeneration is a broader term. Care is supportive and led by neurologists and genetic counsellors.","purpose":"Let an agent explain spinocerebellar ataxias in general terms, relay genetics, symptoms, diagnosis and care from neurology and rare disease sources, route sudden loss of coordination, which can signal stroke, to emergency services, point families to genetic counselling and patient organisations, and distinguish SCAs from Friedreich ataxia, multiple system atrophy and acquired ataxias.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Progressive","Mostly inherited","Many genetic types","No cure yet"],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What spinocerebellar ataxia is.","layers":[{"id":"definition","name":"Definition","description":"Definition.","findings":[{"id":"definition-finding","name":"Definition","description":"Definition.","questions":[{"text":"What are spinocerebellar ataxias, and how do they differ from Friedreich ataxia, MSA and acquired ataxias?","kind":"definition"},{"text":"Is loss of coordination, speech or vision sudden, which may be a stroke needing emergency services now?","kind":"boundary"}]}]},{"id":"types","name":"Types","description":"Named types.","findings":[{"id":"types-finding","name":"Types","description":"Types.","questions":[{"text":"What are SCA16, SCA49, SCA with epilepsy, SCA1 with axonal neuropathy and sideroblastic anaemia with ataxia?","kind":"definition"},{"text":"Which entry fits the specific type?","kind":"action"}]}]}]},{"id":"genetics","name":"Genetics","description":"Genetics.","layers":[{"id":"inheritance","name":"Inheritance","description":"Inheritance.","findings":[{"id":"inheritance-finding","name":"Inheritance","description":"Inheritance.","questions":[{"text":"How are SCAs inherited, and what is anticipation in repeat expansion types?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"testing","name":"Testing","description":"Genetic testing.","findings":[{"id":"testing-finding","name":"Testing","description":"Testing.","questions":[{"text":"What do guidelines say about diagnostic and predictive testing and counselling?","kind":"provenance"},{"text":"Which sources are cited?","kind":"provenance"}]}]}]},{"id":"care","name":"Care","description":"Care and research.","layers":[{"id":"management","name":"Management","description":"Management.","findings":[{"id":"management-finding","name":"Management","description":"Management.","questions":[{"text":"What supportive care such as physiotherapy and speech therapy is recommended?","kind":"provenance"},{"text":"Which entry fits physical therapy?","kind":"action"}]}]},{"id":"research","name":"Research","description":"Research.","findings":[{"id":"research-finding","name":"Research","description":"Research.","questions":[{"text":"What therapies are under investigation, with the status of trials checked against current sources?","kind":"provenance"},{"text":"Which entry fits antisense therapy?","kind":"action"}]}]}]},{"id":"context","name":"Context","description":"Support.","layers":[{"id":"support","name":"Support","description":"Patient support.","findings":[{"id":"support-finding","name":"Support","description":"Support.","questions":[{"text":"Which patient organisations support people with ataxia?","kind":"provenance"},{"text":"Which entry fits National Ataxia Foundation?","kind":"action"}]}]},{"id":"history","name":"History","description":"History.","findings":[{"id":"history-finding","name":"History","description":"History.","questions":[{"text":"How were the first SCA genes discovered?","kind":"provenance"},{"text":"Which entry fits trinucleotide repeat disorder?","kind":"action"}]}]}]}]},"agentConduct":{"may":["Explain spinocerebellar ataxias, their inheritance and symptoms from neurology sources.","Tell a person with sudden loss of coordination to seek emergency care, since it may be a stroke."],"mustNot":["Diagnose an ataxia from symptoms or family history.","Encourage predictive genetic testing without genetic counselling.","Disclose a person's or family's genetic results.","Present unproven treatments as effective."],"requiresHuman":["Decisions about genetic testing, which need counselling and consent.","Any treatment decision, which belongs to the patient and clinician."]},"ethics":{"considerations":["A positive genetic result affects whole families and their futures.","People with progressive disability deserve dignity and access to support."],"affectedParties":["Patients","Family members at risk","Carers"]},"owners":{"steward":"The patient and their clinicians; genetic results belong to the person tested.","roles":[],"masterSystems":[]},"relations":[{"target":"Q154709","type":"parent","note":"registry parent class"},{"target":"Q1620193","type":"parent","note":"registry parent class"},{"target":"Q18553439","type":"parent","note":"registry parent class"},{"target":"Q18558225","type":"parent","note":"registry parent class"},{"target":"Q55346100","type":"parent","note":"registry parent class"},{"target":"Q66124188","type":"parent","note":"registry parent class"},{"target":"cerebellar ataxia","type":"related","note":"in registry terms"},{"target":"autosomal dominant disease","type":"related","note":"mostly"},{"target":"Machado-Joseph disease","type":"related"},{"target":"Friedreich s ataxia","type":"related"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.spinocerebellar-ataxia","Wikidata: Q899726 (https://www.wikidata.org/wiki/Q899726)"]},"properties":{"applicability":"not-applicable","items":["numbered types described: over 40 count - growing","common mechanism: CAG repeat expansions in several types note","usual inheritance: autosomal dominant note","most common type worldwide: SCA3 note - Machado-Joseph disease"]},"recognition":{"applicability":"optional","items":["Inherited progressive cerebellar ataxia","SCA types 1, 16 and 49, SCA with epilepsy, SCA1 with axonal neuropathy, sideroblastic anaemia with ataxia, primary cerebellar degeneration","Friedreich ataxia is usually recessive; multiple system atrophy is not inherited; acquired ataxias follow stroke, alcohol or other causes","Not a visible object; seen as unsteady gait, slurred speech and coordination problems."]},"capabilities":{"applicability":"required","items":["explain in general terms","relay genetics and care","route emergencies and counselling","distinguish related ataxias"]},"hazards":{"applicability":"required","items":["Missing stroke when coordination loss is sudden","Predictive testing without counselling","Registry aliases mixing related rare conditions"]},"interfaces":{"applicability":"required","items":["Genetic testing and counselling guidelines","Orphanet and OMIM classifications"]},"context":{"applicability":"required","items":["Not applicable; a group of diseases.","polyglutamine SCAs such as SCA1, 2, 3, 6, 7 and 17","non-repeat SCAs","SCAs with additional features such as epilepsy or neuropathy","related X-linked and recessive ataxias"]}},"sources":[{"title":"Wikidata item Q899726: spinocerebellar ataxia","url":"https://www.wikidata.org/wiki/Q899726","note":"identity and sense of the item"},{"title":"Wikipedia: Spinocerebellar ataxia","url":"https://en.wikipedia.org/wiki/Spinocerebellar_ataxia","note":"general description of the item"}],"openQuestions":["Should each numbered type be a separate entry?","How should Orphanet and OMIM be linked?","The registry alias sideroblastic anemia with spinocerebellar ataxia is X-linked and may be misfiled under autosomal dominant"],"resources":{"spec":"/models/things/publications/thing-q899726/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q899726/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-13T19:45:18Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-06T19:52:02+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}