{ "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-12T11:33:18Z", "providers": [ "Codex" ], "breadth": "recalled by Codex without web access - no source was read", "missingProviders": [], "pass": 2, "cost": { "grok": { "seconds": 23.7, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.4\n--------\nworkdir: R:\\02_PROJECTS\\02_Meta_Models_Platforms\\Ver.cy\\current\\thing-registry-backlog\nmodel: gpt-6-astra\nprovider: openai\napproval: never\nsandbox: read-only\nreasoning effort: none\nreasoning summaries: none\nsession id: 01a09563-6c06-7452-9431-c10f2369b9ef\n--------\nuser\nDescribe what is already known about one registered thing. Answer as JSON only, no prose around it.\n\nThing: nemaline myopathy\nSense to describe: (none recorded)\nDomain code: INF.KNW\nAlso known as: (none)\n\n\nContext for this batch of 1001 things:\n# Batch 044: 10", "usd": 0.0, "recall": true }, "codex": { "seconds": 82.6, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.4\n--------\nworkdir: R:\\02_PROJECTS\\02_Meta_Models_Platforms\\Ver.cy\\current\\thing-registry-backlog\nmodel: gpt-6-astra\nprovider: openai\napproval: never\nsandbox: read-only\nreasoning effort: none\nreasoning summaries: none\nsession id: 01a09563-6bfd-7a61-b23f-b65a669066ff\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: nemaline myopathy\nRegistry id: vr.tr.nemaline-myopathy\nPlane / domain: INF / INF.KNW\nRegistry definition: (none recorded)\nNames folded into this entr" } }, "enrichment": { "pass": 3, "engine": "claude", "producedAt": "2026-10-06T12:00:00Z", "ingestedAt": "2026-10-06T08:10:40+00:00", "fields": [ "agent_conduct", "ethics", "failure_modes_and_hazards", "owners" ] }, "revisions": [ { "at": "2026-10-07T11:11:34+00:00", "engine": "codex", "fields": [ "agent_conduct", "definition", "distinguishing_features", "in_scope", "purpose", "scope_statement" ], "answering_review": "31fdeb0afed7348a2b50b20327b495dad61d03fff109710fd4275484cae11d86" } ], "gate": { "passed": true, "version": "1.0", "at": "2026-10-07T12:16:29+00:00", "evidence": [ "completeness 1.00", "sense: Wikidata description", "2 live sources", "review by codex: pass" ] } }, "metaModel": { "id": "THING-Q1507379", "registryId": "vr.tr.nemaline-myopathy", "name": "nemaline myopathy", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "INF.KNW" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q1507379/", "model": { "registry_id": "vr.tr.nemaline-myopathy", "name": "nemaline myopathy", "purpose": "Enable an AI agent to recognize congenital nemaline myopathy, distinguish its genetic forms and acquired mimics, assess documented functional and respiratory state, and identify evidence-supported next steps for specialist review.", "definition": "Nemaline myopathy is a clinically and genetically heterogeneous congenital structural myopathy characterized by muscle weakness of varying severity and nemaline rods on muscle biopsy, with a generally non-progressive course but variable progression and complications; acquired nemaline myopathy is outside this sense.", "scope_statement": "This model owns the congenital structural myopathy registered as vr.tr.nemaline-myopathy in INF / INF.KNW: its recognition criteria, genetic distinctions, manifestations, longitudinal assessment and constraints on clinical decisions; acquired nemaline myopathy is included only as a diagnostic boundary, and the model does not represent an individual patient or prescribe treatment.", "in_scope": [ "The subject includes the definition and boundaries of congenital nemaline myopathy.", "Nemaline rods are interpreted alongside clinical and molecular evidence.", "Inherited disease is included, with sporadic acquired nemaline myopathy considered only to distinguish it from the subject.", "Motor, respiratory and bulbar involvement are assessed over time.", "Disease-specific evidence informs surveillance, supportive care and research eligibility." ], "out_of_scope": [ "Complete patient records and unrelated comorbidities", "General models of congenital myopathy, muscular dystrophy and motor neuron disease", "Independent models of genes, variants and sarcomeric proteins", "Laboratory workflows for sequencing and muscle specimen processing", "Detailed prescribing, ventilation-device operation and rehabilitation protocols", "Independent management of monoclonal gammopathy or HIV infection" ], "distinguishing_features": [ "A compatible muscle-weakness phenotype with nemaline bodies on muscle biopsy supports recognition of congenital nemaline myopathy, whose presentations vary in severity and age of recognition.", "A nemaline myopathy diagnosis must be distinguished from an isolated rod finding because rods can occur in other diseases and some normal muscle contexts.", "Facial, neck and proximal limb weakness form a recognizable pattern without every region necessarily being affected.", "Late recognition of inherited disease does not establish acquired disease, and sporadic acquired nemaline myopathy is a separate condition outside this model.", "Respiratory involvement requires assessment independently of limb function because walking ability alone is insufficient to characterize disease burden." ], "characteristics": [ { "name": "Diagnostic evidence state", "kind": "state", "unit_or_values": "suspected; specialist-supported; unresolved; alternative diagnosis favored, with evidence and date", "why_it_matters": "Separates a working diagnosis from an interpretation supported by clinical, pathological and molecular evidence." }, { "name": "Onset and progression", "kind": "measurement", "unit_or_values": "age at first symptoms in months or years; dated functional changes", "why_it_matters": "Distinguishes onset from diagnosis and supports evaluation of inherited and acquired presentations." }, { "name": "Etiologic assignment", "kind": "category", "unit_or_values": "inherited molecularly resolved; inherited suspected; acquired supported; unresolved", "why_it_matters": "Controls which counseling, investigations and treatment evidence may apply." }, { "name": "Molecular evidence", "kind": "relation", "unit_or_values": "gene, variant, transcript, zygosity, phase, classification, laboratory report and interpretation date", "why_it_matters": "Links disease attribution to interpretable evidence rather than a gene name or uncertain variant alone." }, { "name": "Nemaline rod evidence", "kind": "relation", "unit_or_values": "biopsy site and date; staining or microscopy method; distribution; pathology interpretation", "why_it_matters": "Preserves the context needed to distinguish supportive pathology from incidental or ambiguous rods." }, { "name": "Regional weakness", "kind": "measurement", "unit_or_values": "named strength scale and score by facial, neck, axial, proximal and distal muscle region", "why_it_matters": "Captures the distribution that a single global severity label obscures." }, { "name": "Respiratory function", "kind": "measurement", "unit_or_values": "FVC in liters and percent predicted with posture; respiratory pressures in cmH2O; cough flow in L/min; sleep gas-exchange measurements", "why_it_matters": "Supports direct assessment of respiratory burden using age-appropriate, feasible tests." }, { "name": "Bulbar and nutritional state", "kind": "state", "unit_or_values": "swallowing assessment; aspiration concern; feeding route; growth or weight trajectory; unknown explicitly recorded", "why_it_matters": "Connects weakness to feeding safety and nutritional consequences." }, { "name": "Functional support", "kind": "category", "unit_or_values": "mobility assistance, ventilatory support and feeding support, each with initiation date and extent of use", "why_it_matters": "Describes practical disease burden and makes longitudinal comparisons interpretable." } ], "affordances": [ "Assemble a traceable diagnostic evidence profile and flag contradictory or missing evidence.", "Route unresolved cases toward appropriate neuromuscular, genetic or acquired-disease assessment.", "Compare motor, respiratory and swallowing trajectories without collapsing them into one severity score.", "Flag documented deterioration or surveillance gaps for clinical review.", "Check whether management recommendations or study criteria apply to the recorded etiologic form.", "Explain the limits of familial-risk and prognosis statements from the available evidence." ], "agent_conduct": { "may": [ "Explain congenital nemaline myopathy, its genetic forms and inheritance from medical sources.", "Point families to specialist neuromuscular services and patient organisations." ], "must_not": [ "Diagnose or rule out the condition in a specific person.", "Give a prognosis for an individual child or adult.", "Disclose a person's diagnosis or genetic results without consent.", "Recommend unproven treatments as cures." ], "requires_human": [ "Human clinicians must decide on ventilation, feeding support or genetic testing.", "Communication to relatives about a hereditary risk requires human judgment." ] }, "ethics": { "considerations": [ "Genetic diagnoses affect whole families, including decisions about having children.", "People with the condition deserve care that respects their abilities and choices." ], "affected_parties": [ "Patients", "Families and carers", "Relatives at genetic risk" ] }, "owners": { "steward": "The patient with their clinicians; rare disease registries hold research records.", "master_systems": [ "Rare disease patient registries" ] }, "failure_modes_and_hazards": [ "Weakness of breathing and swallowing muscles can be life-threatening.", "Anaesthesia and respiratory infections carry extra risk for patients." ], "what_it_is_for": [ "This diagnosis is encountered in neuromuscular medicine, clinical genetics and muscle pathology.", "It provides a framework for investigating muscle weakness and documenting associated functional, swallowing and respiratory difficulties.", "Clinical records distinguish inherited and acquired forms because the diagnostic interpretation and care context differ." ], "standards_and_regulation": [ "The International Classification of Diseases, Tenth Revision, issued by the World Health Organization, includes congenital nemaline myopathy within category G71.2 for congenital myopathies." ], "facets_not_applicable": { "recognition": "The disorder has no reliable external visual identifier, and diagnosis requires clinical evidence rather than appearance alone." } }, "sources": [ { "id": "wikidata", "title": "Wikidata item Q1507379: nemaline myopathy", "url": "https://www.wikidata.org/wiki/Q1507379", "url_status": "live", "what_it_supports": "identity and sense of the item", "checked_by": "wikidata-api" }, { "id": "wikipedia-en", "title": "Wikipedia: Nemaline myopathy", "url": "https://en.wikipedia.org/wiki/Nemaline_myopathy", "url_status": "live", "what_it_supports": "general description of the item", "checked_by": "wikidata-api sitelink" } ], "structure": { "bundles": [ { "id": "recognition-and-diagnostic-boundaries", "name": "Recognition and diagnostic boundaries", "description": "Establish what qualifies as nemaline myopathy and how each diagnostic assertion is supported.", "rationale": "Neither hypotonia nor a rod-containing biopsy alone supplies a complete disease interpretation.", "layers": [ { "id": "concept-and-phenotype", "name": "Concept and phenotype", "description": "Connect the registered concept to a documented clinical presentation and classification convention.", "findings": [ { "id": "compatible-myopathy-pattern", "name": "Compatible myopathy pattern", "description": "Record the distribution, onset and course of weakness and the evidence that supports a primary muscle disorder.", "questions": [ { "text": "Which clinical features support nemaline myopathy, and which features suggest another neuromuscular disorder?", "kind": "boundary", "id": "compatible-myopathy-pattern-q01" }, { "text": "Which named classification defines the disease spectrum and subtype used in this assessment?", "kind": "definition", "id": "compatible-myopathy-pattern-q02" } ] } ] }, { "id": "pathology-and-evidence-integration", "name": "Pathology and evidence integration", "description": "Interpret rod findings together with clinical and molecular evidence.", "findings": [ { "id": "rod-finding-context", "name": "Rod finding context", "description": "Preserve the original pathology report, sampling context and specialist interpretation, including uncertainty or discordance.", "questions": [ { "text": "Which muscle was sampled, at what age, and by which methods were rods identified?", "kind": "provenance", "id": "rod-finding-context-q01" }, { "text": "How were incidental rods, alternative rod-associated disorders and discordant genetic findings considered?", "kind": "boundary", "id": "rod-finding-context-q02" }, { "text": "If biopsy evidence is absent or inconclusive, what evidence supports the diagnostic label and what remains unresolved?", "kind": "provenance", "id": "rod-finding-context-q03" } ] } ] } ] }, { "id": "etiology-and-inheritance", "name": "Etiology and inheritance", "description": "Separate molecularly supported inherited disease from suspected inherited and acquired forms.", "rationale": "Etiologic uncertainty changes family counseling and the applicability of disease-directed interventions.", "layers": [ { "id": "molecular-attribution", "name": "Molecular attribution", "description": "Represent the evidential chain from a genetic result to its proposed role in this phenotype.", "findings": [ { "id": "variant-and-inheritance-fit", "name": "Variant and inheritance fit", "description": "Require an explicit interpretation of variant significance, inheritance compatibility and phenotype fit.", "questions": [ { "text": "Which reported variants support attribution, and what are their classifications, zygosity, phase and supporting evidence?", "kind": "provenance", "id": "variant-and-inheritance-fit-q01" }, { "text": "Does the family evidence support the proposed inheritance pattern, and what limitations prevent a firm recurrence-risk statement?", "kind": "boundary", "id": "variant-and-inheritance-fit-q02" }, { "text": "What testing limitations or unresolved results justify specialist reanalysis?", "kind": "action", "id": "variant-and-inheritance-fit-q03" } ] } ] }, { "id": "acquired-disease-assessment", "name": "Acquired disease assessment", "description": "Keep late presentation, absent family history and acquired etiology as distinct assertions.", "findings": [ { "id": "sporadic-late-onset-attribution", "name": "Sporadic late-onset attribution", "description": "Record evidence for acquired disease and relevant associated conditions without treating an association as proof of causation.", "questions": [ { "text": "What evidence distinguishes an acquired presentation from inherited nemaline myopathy first recognized in adulthood?", "kind": "boundary", "id": "sporadic-late-onset-attribution-q01" }, { "text": "Were monoclonal gammopathy and HIV evaluated when clinically appropriate, and how do the results affect the specialist's interpretation?", "kind": "provenance", "id": "sporadic-late-onset-attribution-q02" } ] } ] } ] }, { "id": "motor-phenotype-and-course", "name": "Motor phenotype and course", "description": "Describe the distribution and consequences of skeletal muscle weakness across time.", "rationale": "A subtype or genotype label does not adequately describe an individual's functional state.", "layers": [ { "id": "regional-muscle-function", "name": "Regional muscle function", "description": "Record muscle performance in regions relevant to the presenting phenotype.", "findings": [ { "id": "weakness-distribution-and-testing", "name": "Weakness distribution and testing", "description": "Maintain regional strength findings with testing method, cooperation and mechanical limitations.", "questions": [ { "text": "How do facial, neck, trunk, proximal and distal muscle performance differ on the same assessment date?", "kind": "measurement", "id": "weakness-distribution-and-testing-q01" }, { "text": "Which findings reflect measured weakness, and which may reflect contractures, pain, fatigue or testing limitations?", "kind": "boundary", "id": "weakness-distribution-and-testing-q02" } ] } ] }, { "id": "functional-trajectory", "name": "Functional trajectory", "description": "Track motor milestones, daily activities and musculoskeletal consequences using comparable observations.", "findings": [ { "id": "change-in-motor-capacity", "name": "Change in motor capacity", "description": "Distinguish delayed acquisition, stable limitation and loss of previously demonstrated abilities.", "questions": [ { "text": "Which milestones or daily activities were gained, retained or lost, and when?", "kind": "measurement", "id": "change-in-motor-capacity-q01" }, { "text": "How do scoliosis, contractures, growth and changes in assistance affect interpretation of the observed trajectory?", "kind": "boundary", "id": "change-in-motor-capacity-q02" } ] } ] } ] }, { "id": "respiratory-and-bulbar-burden", "name": "Respiratory and bulbar burden", "description": "Represent breathing, cough, swallowing and nutritional function as separately assessed disease dimensions.", "rationale": "Limb performance cannot substitute for direct assessment of these clinically consequential functions.", "layers": [ { "id": "ventilation-and-airway-clearance", "name": "Ventilation and airway clearance", "description": "Track respiratory assessments and support requirements with methods and measurement conditions.", "findings": [ { "id": "respiratory-state-and-trend", "name": "Respiratory state and trend", "description": "Record objective results, relevant symptoms and current support without deriving respiratory severity from ambulation.", "questions": [ { "text": "What do feasible respiratory tests and sleep assessments show, including posture, reference equations and test quality?", "kind": "measurement", "id": "respiratory-state-and-trend-q01" }, { "text": "Which changes in breathing, cough effectiveness or support requirements warrant prompt review under the treating team's plan?", "kind": "action", "id": "respiratory-state-and-trend-q02" } ] } ] }, { "id": "swallowing-and-nutrition", "name": "Swallowing and nutrition", "description": "Connect bulbar assessment to feeding safety, intake and growth.", "findings": [ { "id": "feeding-function-and-consequences", "name": "Feeding function and consequences", "description": "Differentiate reported feeding difficulty from assessed swallowing dysfunction and documented nutritional effects.", "questions": [ { "text": "What swallowing evidence documents safety, aspiration concern or uncertainty, and when was it obtained?", "kind": "provenance", "id": "feeding-function-and-consequences-q01" }, { "text": "How have feeding duration, intake, weight or growth and feeding assistance changed?", "kind": "measurement", "id": "feeding-function-and-consequences-q02" } ] } ] } ] }, { "id": "care-decisions-and-evidence-limits", "name": "Care decisions and evidence limits", "description": "Connect the documented nemaline phenotype and etiology to reviewable care decisions and qualified outcome expectations.", "rationale": "Management evidence must match the disease form and measured burden before an agent can use it responsibly.", "layers": [ { "id": "individualized-support-and-review", "name": "Individualized support and review", "description": "Record specialist plans addressing the specific motor, respiratory and bulbar findings.", "findings": [ { "id": "support-plan-applicability", "name": "Support plan applicability", "description": "Link each proposed or established support measure to its indication, responsible clinician and reassessment criteria.", "questions": [ { "text": "Which documented findings justify respiratory, swallowing, nutritional, mobility or orthopedic support?", "kind": "action", "id": "support-plan-applicability-q01" }, { "text": "What individualized monitoring and escalation plan applies, including respiratory and bulbar assessment before procedures?", "kind": "action", "id": "support-plan-applicability-q02" } ] } ] }, { "id": "intervention-and-prognosis-evidence", "name": "Intervention and prognosis evidence", "description": "Evaluate whether an intervention, study or prognosis statement applies to this etiologic and functional profile.", "findings": [ { "id": "evidence-matched-options", "name": "Evidence-matched options", "description": "Separate established supportive practice, subtype-specific evidence and investigational approaches using dated sources.", "questions": [ { "text": "Does the cited intervention evidence concern inherited nemaline myopathy, acquired disease or another myopathy?", "kind": "boundary", "id": "evidence-matched-options-q01" }, { "text": "What current evidence and eligibility criteria support specialist consideration of the proposed intervention or study?", "kind": "action", "id": "evidence-matched-options-q02" }, { "text": "Which prognosis statements are supported for the relevant phenotype, and which exceed the available follow-up?", "kind": "provenance", "id": "evidence-matched-options-q03" } ] } ] } ] }, { "id": "evidence-and-external-alignment", "name": "Evidence and external alignment", "description": "What the world already says about this thing, gathered so the model can be checked against it.", "rationale": "A model that cannot be lined up against existing standards, identifiers and practice cannot be adopted by anyone who already uses them.", "layers": [ { "id": "reported-evidence", "name": "Reported evidence", "description": "Findings from the breadth pass, kept separate from the structural claims.", "findings": [ { "id": "evidence-confidence-notes", "name": "Check these first", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "The supplied domain code INF.KNW does not reflect the ordinary clinical classification of this thing as a disease group.", "Onset and severity categories are historical clinical groupings with overlapping boundaries; they do not map directly onto individual genes.", "This is a recall-based description without source verification; exact disease identifiers, current genetic classification and formal care guidance require checking." ], "questions": [ { "id": "evidence-confidence-notes-q01", "text": "Which of these check these first hold for the sense of nemaline myopathy this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-kinds", "name": "Kinds and varieties", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Severe congenital nemaline myopathy", "Intermediate congenital nemaline myopathy", "Typical congenital nemaline myopathy", "Childhood-onset nemaline myopathy", "Adult-onset inherited nemaline myopathy", "Sporadic late-onset nemaline myopathy" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of nemaline myopathy this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-identifiers", "name": "Identifiers and schemes", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "scheme": "OMIM", "value_or_pattern": "Six-digit phenotype identifiers for individual genetic forms", "note": "Nemaline myopathy has multiple genetic forms rather than a single gene-specific entry." }, { "scheme": "HGNC", "value_or_pattern": "NEB; ACTA1", "note": "Approved symbols for two major causative genes; these identify genes, not the disease itself." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of nemaline myopathy this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-real-world-use", "name": "Real-world use", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Diagnostic classification of congenital or later-onset muscle weakness.", "Guiding molecular testing and inheritance counselling.", "Planning respiratory, swallowing, nutritional and mobility assessments.", "Defining patient groups for natural-history studies and clinical research." ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of nemaline myopathy this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-measurements", "name": "Typical measurements", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "quantity": "Serum creatine kinase activity", "typical_range": "Often normal or mildly elevated; no universal disease-specific numerical range", "unit": "U/L" } ], "questions": [ { "id": "evidence-measurements-q01", "text": "Which of these typical measurements hold for the sense of nemaline myopathy this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-failure-modes-and-hazards", "name": "Failure modes and hazards", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Respiratory muscle weakness and nocturnal hypoventilation, sometimes disproportionate to limb weakness.", "Bulbar weakness causing swallowing difficulties and aspiration.", "Feeding difficulties and inadequate nutrition.", "Scoliosis, contractures and impaired mobility.", "Diagnostic error if nemaline rods are treated as specific to this disorder without clinical and molecular correlation." ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of nemaline myopathy this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-neighbours", "name": "Neighbouring kinds and how to tell them apart", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "name": "Congenital myopathy", "difference": "The broader category; nemaline myopathy is a subgroup associated with nemaline rods and characteristic clinical or molecular findings." }, { "name": "Core myopathy", "difference": "Muscle biopsy characteristically shows regions with reduced oxidative enzyme activity rather than predominantly nemaline rods, although overlapping pathology occurs." }, { "name": "Centronuclear myopathy", "difference": "Abnormally central muscle-fibre nuclei are the characteristic pathological feature rather than nemaline rods." }, { "name": "Sporadic late-onset nemaline myopathy", "difference": "An acquired adult-onset form distinguished from inherited disease by its clinical context and investigation; it can be associated with monoclonal gammopathy or HIV." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of nemaline myopathy this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Does the registry intend this entry to encompass sporadic acquired nemaline myopathy, or should that concept be represented through an explicit relation to a separately registered entity?", "Which current consensus criteria best define diagnostic confidence when biopsy is unavailable, rods are sparse or molecular results remain inconclusive?", "Which genes and variant mechanisms have sufficiently established disease associations to include in a maintained etiologic reference, and how should conflicting classifications be handled?", "Which motor, respiratory and patient-reported measures are validated and sensitive to change across different ages and severities of nemaline myopathy?", "What current evidence supports disease-directed interventions for each inherited or acquired subgroup, and what natural-history uncertainty limits individualized prognosis?" ], "statistics": { "bundles": 6, "layers": 11, "findings": 17, "questions": 30 } }