{ "model": { "rank": 12797, "code": "thing-q580290", "model_id": "vr.tr.spinal-muscular-atrophy", "name": "spinal muscular atrophy", "purpose": "Let an agent explain spinal muscular atrophy and its forms, relay genetics, diagnosis, treatment and care from neuromuscular guidelines in general terms, route affected people to specialists and patient organisations, and distinguish SMA from muscular dystrophies, amyotrophic lateral sclerosis and other motor neuron diseases.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q580290/", "tier": 2, "score": 39, "payload": { "layer": "wikidata", "aliases": [ "spinal muscular atrophy, Ryukyuan type", "spinal muscular atrophy with progressive myoclonic epilepsy", "autosomal dominant distal hereditary motor neuropathy", "X-linked spinal muscular atrophy 2", "anterior horn cell disease", "survival motor neuron spinal muscular atrophy", "scapuloperoneal spinal muscular atrophy", "bulbospinal muscular atrophy", "proximal spinal muscular atrophy", "autosomal recessive distal hereditary motor neuronopathy", "Spinal muscular atrophy with lower extremity predominance", "spinal muscular atrophy with lower extremity predominance" ], "aliasCount": 12, "merged": 12, "knownIn": 39, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q580290", "url": "https://www.wikidata.org/wiki/Q580290", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-13T13:26:56Z", "providers": [ "Claude" ], "breadth": "written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify", "pass": 2, "wave": 4, "engine": "claude" }, "metaModel": { "id": "THING-Q580290", "registryId": "vr.tr.spinal-muscular-atrophy", "name": "spinal muscular atrophy", "version": "0.2.0-wave.4", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q580290/", "model": { "registry_id": "vr.tr.spinal-muscular-atrophy", "name": "spinal muscular atrophy", "purpose": "Let an agent explain spinal muscular atrophy and its forms, relay genetics, diagnosis, treatment and care from neuromuscular guidelines in general terms, route affected people to specialists and patient organisations, and distinguish SMA from muscular dystrophies, amyotrophic lateral sclerosis and other motor neuron diseases.", "definition": "A group of genetic disorders in which motor neurons in the spinal cord anterior horn degenerate, causing progressive muscle weakness and wasting, most often the autosomal recessive form caused by survival motor neuron gene mutations and classified by onset from type 0 to type 4, alongside rarer forms such as X-linked SMA, distal hereditary motor neuropathies, SMA with progressive myoclonic epilepsy and regional variants such as the Ryukyuan type; disease-modifying treatments now exist, and affected families should be under specialist neuromuscular care.", "what_it_is_for": "Not applicable; a disease group.", "affordances": [ "explain forms and genetics", "relay diagnosis and treatment", "route to specialists", "distinguish related diseases" ], "distinguishing_features": [ "Motor neuron loss", "Genetic causes", "Onset-based types", "Disease-modifying therapy" ], "appearance": "Not a visible object; progressive weakness, often from infancy.", "visual_identification": [ "Anterior horn cell degeneration from genetic causes", "SMN-related SMA types 0-4, X-linked SMA, distal hereditary motor neuropathy, SMA with myoclonic epilepsy, Ryukyuan type", "Muscular dystrophies affect muscle itself; ALS is adult-onset and involves upper motor neurons" ], "physical_properties": [ { "quantity": "SMN1-related SMA incidence", "typical_range": "about 1 in 10000", "unit": "births", "note": "" }, { "quantity": "carrier frequency", "typical_range": "about 1 in 50", "unit": "ratio", "note": "" }, { "quantity": "first approved therapy", "typical_range": "2016", "unit": "year", "note": "nusinersen" }, { "quantity": "gene therapy approved", "typical_range": "2019", "unit": "year", "note": "onasemnogene" } ], "families_and_kinds": [ "SMN-related SMA types 0 to 4", "X-linked spinal muscular atrophy", "distal hereditary motor neuropathies including autosomal dominant forms", "SMA with progressive myoclonic epilepsy", "regional forms such as the Ryukyuan type", "other anterior horn cell diseases" ], "related_models": [ { "relation": "is a kind of", "target": "spinal muscular atrophies", "why": "in registry terms" }, { "relation": "is a kind of", "target": "motor neuron disease", "why": "in general terms" }, { "relation": "is caused by", "target": "SMN1 gene", "why": "mutations in the common form" }, { "relation": "is contrasted with", "target": "muscular dystrophy", "why": "a disease of muscle" } ], "identifiers": [ { "scheme": "ICD-10", "value_or_pattern": "G12", "note": "spinal muscular atrophy and related syndromes" }, { "scheme": "MeSH", "value_or_pattern": "D009134", "note": "Muscular Atrophy, Spinal" } ], "standards_and_regulation": [ "International standards of care for SMA", "Newborn screening programmes in some countries", "Orphan drug and gene therapy approvals" ], "failure_modes_and_hazards": [ "Delayed diagnosis", "Agents giving personal medical advice", "Stale treatment information" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "understand", "name": "Understand", "description": "What SMA is.", "rationale": "Clinical.", "layers": [ { "id": "definition", "name": "Definition", "description": "Definition and forms.", "findings": [ { "id": "definition-finding", "name": "Definition", "description": "Definition.", "questions": [ { "text": "What is spinal muscular atrophy, and how do the SMN-related types and the rarer forms differ from dystrophies and ALS?", "kind": "definition" }, { "text": "Is the user asking about their own or a family member s diagnosis, which needs a specialist?", "kind": "boundary" } ] } ] }, { "id": "genetics", "name": "Genetics", "description": "Genetics.", "findings": [ { "id": "genetics-finding", "name": "Genetics", "description": "Genetics.", "questions": [ { "text": "How do SMN1 and SMN2 and other genes cause SMA, and how is it inherited, in general terms?", "kind": "provenance" }, { "text": "Which entry fits the specific form?", "kind": "action" } ] } ] } ] }, { "id": "care", "name": "Care", "description": "Diagnosis and treatment.", "rationale": "Clinical.", "layers": [ { "id": "diagnosis", "name": "Diagnosis", "description": "Diagnosis and screening.", "findings": [ { "id": "diagnosis-finding", "name": "Diagnosis", "description": "Diagnosis.", "questions": [ { "text": "How is SMA diagnosed by genetic testing and newborn screening, as guidelines describe?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] }, { "id": "treatment", "name": "Treatment", "description": "Treatment.", "findings": [ { "id": "treatment-finding", "name": "Treatment", "description": "Treatment.", "questions": [ { "text": "What treatments exist, including nusinersen, gene therapy and risdiplam, and what supportive care do standards recommend?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] } ] }, { "id": "support", "name": "Support", "description": "Living with SMA.", "rationale": "Application.", "layers": [ { "id": "daily", "name": "Daily", "description": "Daily care.", "findings": [ { "id": "daily-finding", "name": "Daily", "description": "Daily.", "questions": [ { "text": "How do multidisciplinary care, respiratory and nutritional support and physiotherapy help, in general terms?", "kind": "provenance" }, { "text": "Which entry fits neuromuscular care?", "kind": "action" } ] } ] }, { "id": "organisations", "name": "Organisations", "description": "Organisations.", "findings": [ { "id": "organisations-finding", "name": "Organisations", "description": "Organisations.", "questions": [ { "text": "Where can families find SMA organisations, registries and trials?", "kind": "action" }, { "text": "Which entry fits SMA patient organisations?", "kind": "action" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Research and history.", "rationale": "Context.", "layers": [ { "id": "research", "name": "Research", "description": "Research.", "findings": [ { "id": "research-finding", "name": "Research", "description": "Research.", "questions": [ { "text": "What research directions exist in SMA, with findings attributed?", "kind": "provenance" }, { "text": "Which entry fits gene therapy?", "kind": "action" } ] } ] }, { "id": "history", "name": "History", "description": "History.", "findings": [ { "id": "history-finding", "name": "History", "description": "History.", "questions": [ { "text": "How was SMA described by Werdnig and Hoffmann, and how did the SMN gene discovery lead to therapy?", "kind": "provenance" }, { "text": "Which entry fits the history of neurology?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should the SMN-related types and X-linked SMA be separate primary entries?", "How should neuromuscular guidelines be linked?", "The registry entry has merged aliases naming distinct disorders; should they be split off?" ], "statistics": { "bundles": 4, "layers": 8, "findings": 8, "questions": 16 } }, "draft": { "generator": "vr.draft.v3", "status": "draft-generated", "researched": false, "archetype": "abstract concept", "method": "Written from the archetype playbook - what this kind of thing needs beyond identity and provenance - and from the structure that recurred across 6,333 models already researched by two engines. Applied to this entry by rule. No source was read for this thing and no claim here is researched. This entry carries no facets of its own, so they were inferred from its domain - a guess about a whole domain applied to one thing.", "facetsInferred": true, "nextPass": "A researcher replaces this draft with a sourced specification. Treat every sentence below as a proposal to argue with.", "purpose": "Give an agent a durable, checkable way to recognise a spinal muscular atrophy, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain spinal muscular atrophy and its forms, relay genetics, diagnosis, treatment and care from neuromuscular guidelines in general terms, route affected people to specialists and patient organisations, and distinguish SMA from muscular dystrophies, amyotrophic lateral sclerosis and other motor neuron diseases.", "characteristics": { "substance": "abstract", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "observed and measured" ], "distinguishingFeatures": [ "Names folded into this entry, which a task may need to split apart again: spinal muscular atrophy, Ryukyuan type, spinal muscular atrophy with progressive myoclonic epilepsy, autosomal dominant distal hereditary motor neuropathy, X-linked spinal muscular atrophy 2, anterior horn cell disease, survival motor neuron spinal muscular atrophy, scapuloperoneal spinal muscular atrophy, bulbospinal muscular atrophy, proximal spinal muscular atrophy, autosomal recessive distal hereditary motor neuronopathy, Spinal muscular atrophy with lower extremity predominance, spinal muscular atrophy with lower extremity predominance.", "12 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 39 Wikipedia languages, which is a measure of how widely the thing is known, not of how important it is." ], "openQuestionsForResearch": [ "Which of the bundles below does a real task actually need, and which are ceremony?", "What does this thing have that the facets do not capture at all?", "Which neighbouring kind is most often confused with a spinal muscular atrophy, and on what evidence are they told apart?" ], "whatItIsMadeOf": "an abstraction with no physical instance", "physicalCharacter": [ "Does nothing on its own; everything it does, something else did to it.", "These come from the domain this entry sits in rather than from the entry itself, so treat them as a first guess about the whole domain applied to one thing." ], "whatCanBeDoneWithIt": [ "observe it, measure it, record its state" ], "howItIsRecognised": [ "Nothing to see. What is recognised is an instance of it, and which instances count is exactly what is argued about." ], "relatedModels": [ { "relation": "covers", "note": "Finer kinds folded into this entry because telling them apart needs a task that asks for it. Each is a model waiting to be split out when one does.", "targets": [ "spinal muscular atrophy, Ryukyuan type", "spinal muscular atrophy with progressive myoclonic epilepsy", "autosomal dominant distal hereditary motor neuropathy", "X-linked spinal muscular atrophy 2", "anterior horn cell disease", "survival motor neuron spinal muscular atrophy", "scapuloperoneal spinal muscular atrophy", "bulbospinal muscular atrophy", "proximal spinal muscular atrophy", "autosomal recessive distal hereditary motor neuronopathy", "Spinal muscular atrophy with lower extremity predominance", "spinal muscular atrophy with lower extremity predominance" ] } ], "standing": "Described in 39 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 12 finer distinctions are held inside this entry as names rather than as separate models.", "structure": { "bundles": [ { "id": "identity-and-classification", "name": "Identity, naming and classification", "description": "How an agent tells one spinal muscular atrophy from another, and a spinal muscular atrophy from things that resemble it.", "rationale": "Recognition comes before every other claim. Without stable identity nothing else in the model can be trusted to be about the same thing twice.", "layers": [ { "id": "naming-and-identifiers", "name": "Names and identifiers", "description": "The names this thing goes by and the identifiers that survive translation and time.", "findings": [ { "id": "preferred-name-and-aliases", "name": "Preferred name, aliases and local names", "description": "Which name to use, which names mean the same thing, and which merely sound similar.", "questions": [ { "id": "preferred-name-and-aliases-q01", "text": "What identifies and describes the name of a spinal muscular atrophy, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "preferred-name-and-aliases-q02", "text": "Who or what asserted this about the name of a spinal muscular atrophy, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "preferred-name-and-aliases-q03", "text": "What may an agent decide or do once the name of a spinal muscular atrophy is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "stable-identifiers", "name": "Stable identifiers and external keys", "description": "Identifiers that keep pointing at this kind of thing across systems and languages.", "questions": [ { "id": "stable-identifiers-q01", "text": "What identifies and describes an identifier for a spinal muscular atrophy, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stable-identifiers-q02", "text": "Who or what asserted this about an identifier for a spinal muscular atrophy, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stable-identifiers-q03", "text": "What may an agent decide or do once an identifier for a spinal muscular atrophy is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "classification-and-granularity", "name": "Classification and granularity", "description": "Where a spinal muscular atrophy sits among kinds, and how finely a task needs to cut it.", "findings": [ { "id": "kind-and-parents", "name": "Kind, parents and neighbouring kinds", "description": "The classes this thing belongs to and the ones it is next to.", "questions": [ { "id": "kind-and-parents-q01", "text": "What identifies and describes the kind of a spinal muscular atrophy, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "kind-and-parents-q02", "text": "Who or what asserted this about the kind of a spinal muscular atrophy, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "kind-and-parents-q03", "text": "What may an agent decide or do once the kind of a spinal muscular atrophy is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "distinguishing-features", "name": "Distinguishing features", "description": "What separates a spinal muscular atrophy from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a spinal muscular atrophy, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "distinguishing-features-q02", "text": "Who or what asserted this about what distinguishes a spinal muscular atrophy, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "distinguishing-features-q03", "text": "What may an agent decide or do once what distinguishes a spinal muscular atrophy is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "state-and-lifecycle", "name": "State and lifecycle", "description": "The states a spinal muscular atrophy passes through and the events that move it between them.", "rationale": "Most decisions about a thing depend on what state it is in now, which is a claim with a time on it, not a property.", "layers": [ { "id": "lifecycle-stages", "name": "Lifecycle stages", "description": "From coming into existence to ceasing to be one of these.", "findings": [ { "id": "stages-and-transitions", "name": "Stages and transitions", "description": "The stages worth naming and what moves a spinal muscular atrophy between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a spinal muscular atrophy, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stages-and-transitions-q02", "text": "Who or what asserted this about the lifecycle of a spinal muscular atrophy, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stages-and-transitions-q03", "text": "What may an agent decide or do once the lifecycle of a spinal muscular atrophy is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "observations-and-status", "name": "Observations and current status", "description": "What is observed about a spinal muscular atrophy, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a spinal muscular atrophy is recorded so that it can be superseded rather than overwritten.", "questions": [ { "id": "observation-record-q01", "text": "What identifies and describes an observation of a spinal muscular atrophy, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "observation-record-q02", "text": "Who or what asserted this about an observation of a spinal muscular atrophy, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "observation-record-q03", "text": "What may an agent decide or do once an observation of a spinal muscular atrophy is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "definitions-in-contest", "name": "Definitions and who holds them", "description": "What spinal muscular atrophy is taken to mean, and by whom.", "rationale": "When a field disagrees about a concept, the disagreement is the content. A model that picks one definition silently destroys the information.", "layers": [ { "id": "competing-definitions", "name": "Competing definitions", "description": "The main readings and the traditions behind them.", "findings": [ { "id": "definition-map", "name": "Definitions and their holders", "description": "Each definition with the school or body that holds it.", "questions": [ { "id": "definition-map-q01", "text": "Which definitions of spinal muscular atrophy are in use, and which tradition or body holds each?", "kind": "definition" }, { "id": "definition-map-q02", "text": "What turns on the difference between them in practice?", "kind": "boundary" } ] } ] }, { "id": "operationalisation", "name": "Operationalisation", "description": "How it is measured or applied when it has to be.", "findings": [ { "id": "operational-record", "name": "Measures and proxies", "description": "Instruments and indicators used to stand in for it.", "questions": [ { "id": "operational-record-q01", "text": "How is spinal muscular atrophy operationalised or measured in practice, and by what instrument?", "kind": "measurement" }, { "id": "operational-record-q02", "text": "What does that operationalisation leave out, and when does that matter?", "kind": "boundary" } ] } ] } ] }, { "id": "instances-and-use", "name": "Instances, use and consequence", "description": "What counts as an instance of spinal muscular atrophy and what follows from calling something that.", "rationale": "Applying a concept is an act with consequences, so a model must say what the label licenses and what it does not.", "layers": [ { "id": "instances", "name": "What counts as an instance", "description": "Clear cases, borderline cases and non-cases.", "findings": [ { "id": "instance-tests", "name": "Tests for an instance", "description": "What would settle whether something falls under it.", "questions": [ { "id": "instance-tests-q01", "text": "What would settle whether something is an instance of spinal muscular atrophy?", "kind": "boundary" }, { "id": "instance-tests-q02", "text": "Which borderline cases are argued about, and on what grounds?", "kind": "definition" } ] } ] }, { "id": "consequence", "name": "Consequence of application", "description": "Rights, duties or decisions that follow from the label.", "findings": [ { "id": "consequence-record", "name": "What the label licenses", "description": "What an agent may do once something is classified this way.", "questions": [ { "id": "consequence-record-q01", "text": "What follows practically once something is treated as spinal muscular atrophy?", "kind": "action" }, { "id": "consequence-record-q02", "text": "What must an agent not infer from the label alone?", "kind": "action" } ] } ] } ] }, { "id": "provenance-and-evidence", "name": "Provenance, evidence and time", "description": "Where every claim about a spinal muscular atrophy came from and when it held.", "rationale": "A claim without a source and a time cannot be superseded, only overwritten, and an agent that overwrites loses the ability to explain itself.", "layers": [ { "id": "source-and-authority", "name": "Source and authority", "description": "Who said it, on what evidence, and how strongly.", "findings": [ { "id": "claim-provenance", "name": "Claim provenance and confidence", "description": "The authority behind each claim about a spinal muscular atrophy and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a spinal muscular atrophy, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "claim-provenance-q02", "text": "Who or what asserted this about a claim about a spinal muscular atrophy, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "claim-provenance-q03", "text": "What may an agent decide or do once a claim about a spinal muscular atrophy is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "time-and-versions", "name": "Time, versions and supersession", "description": "When a claim was true, when it was learnt, and what replaced it.", "findings": [ { "id": "validity-and-supersession", "name": "Validity period and supersession", "description": "How an old claim about a spinal muscular atrophy is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a spinal muscular atrophy, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "validity-and-supersession-q02", "text": "Who or what asserted this about the validity of a claim about a spinal muscular atrophy, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "validity-and-supersession-q03", "text": "What may an agent decide or do once the validity of a claim about a spinal muscular atrophy is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] } ] }, "statistics": { "bundles": 5, "layers": 10, "findings": 12, "questions": 32 } } } }