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Published

spinocerebellar ataxia

vr.tr.spinocerebellar-ataxia · thing-q899726

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.

Thing Registry Cross-cutting context XCT.STA
Bundle → Layer → Finding → QuestionsClassifiersWhat it isWhy it existsDistinguishing featuresWhat robots and AI may and may not doMoral aspectsOwnersLinks to other meta-modelsIdentity and identifiersDirect propertiesRecognitionCapabilities and actionsHazards and failure modesStandards and interfacesContext of useSources

Bundle → Layer → Finding → Questions Filled

4 bundles · 8 layers · 8 findings · 16 questions

Understand What spinocerebellar ataxia is.

Definition

Definition.

Definition

Definition.

  1. What are spinocerebellar ataxias, and how do they differ from Friedreich ataxia, MSA and acquired ataxias? definition
  2. Is loss of coordination, speech or vision sudden, which may be a stroke needing emergency services now? boundary

Types

Named types.

Types

Types.

  1. What are SCA16, SCA49, SCA with epilepsy, SCA1 with axonal neuropathy and sideroblastic anaemia with ataxia? definition
  2. Which entry fits the specific type? action
Genetics Genetics.

Inheritance

Inheritance.

Inheritance

Inheritance.

  1. How are SCAs inherited, and what is anticipation in repeat expansion types? provenance
  2. Which references are standard? provenance

Testing

Genetic testing.

Testing

Testing.

  1. What do guidelines say about diagnostic and predictive testing and counselling? provenance
  2. Which sources are cited? provenance
Care Care and research.

Management

Management.

Management

Management.

  1. What supportive care such as physiotherapy and speech therapy is recommended? provenance
  2. Which entry fits physical therapy? action

Research

Research.

Research

Research.

  1. What therapies are under investigation, with the status of trials checked against current sources? provenance
  2. Which entry fits antisense therapy? action
Context Support.

Support

Patient support.

Support

Support.

  1. Which patient organisations support people with ataxia? provenance
  2. Which entry fits National Ataxia Foundation? action

History

History.

History

History.

  1. How were the first SCA genes discovered? provenance
  2. Which entry fits trinucleotide repeat disorder? action

Classifiers Filled

Family
Thing Registry
Category
Cross-cutting context
Entry kind
thing
Plane
XCT
Domain
XCT.STA
Other names and narrower kinds
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

What it is Filled

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.

Why it exists Filled

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.

Distinguishing features Filled

  • Progressive
  • Mostly inherited
  • Many genetic types
  • No cure yet

What robots and AI may and may not do Filled

Must not

  • 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.

Only with a human decision

  • Decisions about genetic testing, which need counselling and consent.
  • Any treatment decision, which belongs to the patient and clinician.

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.

Moral aspects Filled

  • A positive genetic result affects whole families and their futures.
  • People with progressive disability deserve dignity and access to support.

Who is affected

  • Patients
  • Family members at risk
  • Carers

Owners Filled

Steward

The patient and their clinicians; genetic results belong to the person tested.

Links to other meta-models Filled

parent

  • Q154709 - registry parent class
  • Q1620193 - registry parent class
  • Q18553439 - registry parent class
  • Q18558225 - registry parent class
  • Q55346100 - registry parent class
  • Q66124188 - registry parent class

related

  • cerebellar ataxia - in registry terms
  • autosomal dominant disease - mostly
  • Machado-Joseph disease
  • Friedreich s ataxia

What else AI and robots need to interact with it Filled

Identity and identifiers required Filled

  • Vercy registry: vr.tr.spinocerebellar-ataxia
  • Wikidata: Q899726 (https://www.wikidata.org/wiki/Q899726)

Direct properties not applicable Not applicable

  • 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

Plane XCT: no invented physical properties.

Recognition optional Filled

  • 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 and actions required Filled

  • explain in general terms
  • relay genetics and care
  • route emergencies and counselling
  • distinguish related ataxias

Hazards and failure modes required Filled

  • Missing stroke when coordination loss is sudden
  • Predictive testing without counselling
  • Registry aliases mixing related rare conditions

Standards and interfaces required Filled

  • Genetic testing and counselling guidelines
  • Orphanet and OMIM classifications

Context of use required Filled

  • 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 Filled

  1. Wikidata item Q899726: spinocerebellar ataxia - identity and sense of the item
  2. Wikipedia: Spinocerebellar ataxia - general description of the item

Open questions

  • 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

Machine files

Card as JSON Specification Card backlog vercy.card/1

Provenance

thing registry research (pass 2) · unreviewed

Built from: models/things/publications/thing-q899726/spec.json