Kennedy disease
Enable an agent to recognise Kennedy disease, assess disease-specific evidence and functional change, and identify appropriate clinical review without confusing inherited susceptibility, diagnosis and care delivery.
Bundle → Layer → Finding → Questions Filled
6 bundles · 11 layers · 17 findings · 32 questions
Identity and diagnostic boundaries Anchor the registered thing to SBMA and distinguish its diagnostic assertion from neighbouring entities.
Concept and coding
Resolve terminology and classification without assuming every code is disease-specific.
SBMA concept equivalence
Kennedy disease and SBMA name the same disease concept. Source: [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1333/).
- Does an existing world model already represent SBMA and therefore own this registry concept? boundary
- Which ICD-10 national modification, ICD-11 release and SNOMED CT edition support each proposed mapping, and is the mapping exact or broader? provenance
Differential evidence
Make the reason for preferring SBMA inspectable.
Motor neuron differential
Retain explicit comparisons with ALS and other spinal muscular atrophies rather than inferring SBMA from weakness alone.
- Which examination and molecular findings distinguish this presentation from ALS and SMN1-related spinal muscular atrophy? boundary
- Which discordant findings remain unexplained, and who reviewed their diagnostic significance? provenance
AR expansion and inheritance Connect the causal molecular evidence to interpretation and family implications.
Repeat sizing and interpretation
Separate the assay result from the rule used to interpret it.
Repeat boundary evidence
GeneReviews classifies ≥38 repeats as full penetrance, 36-37 as reduced penetrance and 35 as uncertain; retain contextual interpretation. Source: [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1333/).
- What repeat sizes, assay method, sizing uncertainty and report date were recorded? measurement
- Which laboratory interpretation and clinical reference revision govern this result, especially near the repeat boundary? provenance
Familial expression
Represent inherited expansion and observed disease separately.
X-linked expression
SBMA is X-linked and predominantly affects males; heterozygous females may have mild manifestations. Source: [MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy/).
- What documented pedigree and molecular evidence support inheritance, and which relatives have unknown status? provenance
- Is the linked individual symptomatic, presymptomatic or identified through family testing, and what supports that distinction? boundary
- What consent and counselling are needed before offering testing or discussing reproductive implications? action
Neuromuscular course Describe manifestation patterns and observed functional change.
Motor and sensory pattern
Capture a dated examination relevant to SBMA attribution.
Regional neuromuscular findings
Record weakness, atrophy, reflexes, fasciculations, tremor and sensory findings by region, distinguishing observed absence from missing assessment.
- Which limb and bulbar regions were assessed, and what was the distribution of abnormalities? measurement
- Do electrodiagnostic findings support the proposed pattern, and what competing explanations remain? boundary
Trajectory and milestones
Track change without imposing unsupported stage boundaries.
Observed functional change
Anchor trajectory to symptom onset, dated functional assessments and milestones; do not predict individual decline from repeat length alone.
- When did cramps, weakness, walking limitations and bulbar symptoms first appear, and how reliable are these dates? provenance
- What changed on the same SBMAFRS version or comparable performance measure under documented assessment conditions? measurement
- Could an abrupt decline reflect intercurrent illness, injury or another condition requiring reassessment? action
Bulbar, respiratory and systemic burden Connect non-limb manifestations to assessment and disease attribution.
Swallowing and ventilation
Keep symptom reports, measured impairment and complications distinct.
Bulbar and respiratory complications
Dysphagia, aspiration and respiratory weakness are relevant complications. Source: [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1333/).
- What swallowing assessment, weight trajectory and choking or aspiration history are documented? measurement
- What respiratory symptoms and tests were assessed, including posture, units and use of support? measurement
- Which findings meet the treating service's criteria for urgent swallowing or respiratory review? action
Androgen and metabolic manifestations
Represent systemic observations without automatically attributing every abnormality to SBMA.
Systemic attribution
Androgen-insensitivity features and metabolic abnormalities can accompany SBMA. Source: [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1333/).
- Which endocrine, reproductive, metabolic, hepatic or cardiac findings have actually been assessed? measurement
- Which findings are attributed to SBMA, which are independent diagnoses, and what supports each attribution? boundary
Management and population evidence Constrain action and population claims to evidence that applies to SBMA.
Evidence-qualified actions
Attach each proposed action to an assessed need and applicable evidence.
Intervention status
Separate supportive interventions, proposed disease-modifying treatment and trial participation; retain indication, jurisdiction and review date.
- Which assessed limitation motivates rehabilitation, mobility assistance, communication support or swallowing review? action
- For a proposed drug or hormonal intervention, what SBMA-specific evidence, safety assessment and current local authorization apply? provenance
- Which clinician owns the decision, and what outcome and reassessment point would establish benefit or harm? action
Population and ascertainment
Qualify frequency and natural-history claims by how populations were identified.
Clinical versus genetic frequency
Diagnosed SBMA prevalence and AR-expansion frequency measure different quantities. Source: [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1333/).
- Does the estimate count clinically diagnosed cases, symptomatic expansion carriers or all detected expansions? definition
- What population, age and sex denominator, geography, observation years and ascertainment method underlie the estimate? measurement
- How do referral selection, founder effects and age at assessment limit transfer to another population? boundary
Evidence and external alignment What the world already says about this thing, gathered so the model can be checked against it.
Reported evidence
Findings from the breadth pass, kept separate from the structural claims.
Check these first
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these check these first hold for the sense of Kennedy disease this model covers, and on what evidence? provenance
Identifiers and schemes
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these identifiers and schemes hold for the sense of Kennedy disease this model covers, and on what evidence? provenance
Real-world use
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these real-world use hold for the sense of Kennedy disease this model covers, and on what evidence? provenance
Typical measurements
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these typical measurements hold for the sense of Kennedy disease this model covers, and on what evidence? provenance
Failure modes and hazards
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these failure modes and hazards hold for the sense of Kennedy disease this model covers, and on what evidence? provenance
Regional variation
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these regional variation hold for the sense of Kennedy disease this model covers, and on what evidence? provenance
Neighbouring kinds and how to tell them apart
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these neighbouring kinds and how to tell them apart hold for the sense of Kennedy disease this model covers, and on what evidence? provenance
Classifiers Filled
- Family
- Thing Registry
- Category
- Cross-cutting context
- Entry kind
- thing
- Plane
- XCT
- Domain
- XCT.STA
What it is Filled
Kennedy disease, also called spinal and bulbar muscular atrophy (SBMA), is an X-linked disorder caused by a CAG-repeat expansion in the androgen receptor gene, producing slowly progressive lower motor neuron and skeletal muscle dysfunction, predominantly in adult males, with features of androgen insensitivity.
In scope
- Disease identity and boundaries against other motor neuron disorders
- AR CAG-repeat evidence and the basis for diagnostic confidence
- Motor, bulbar, sensory and androgen-related manifestations
- Functional trajectory and complication surveillance
- Inheritance, affected populations and evidence-qualified management
Out of scope
- The person's identity and complete longitudinal health record
- Individual appointments, admissions and episodes of care
- Laboratory specimen handling and sequencing infrastructure
- Independent models of ALS, SMN1-related spinal muscular atrophy and androgen insensitivity syndrome
- Medication products, prescribing workflows and clinical trial protocols
Why it exists Filled
Enable an agent to recognise Kennedy disease, assess disease-specific evidence and functional change, and identify appropriate clinical review without confusing inherited susceptibility, diagnosis and care delivery.
Distinguishing features Filled
- Establish whether targeted testing identifies an AR CAG-repeat expansion; a generic spinal muscular atrophy label does not distinguish SBMA from SMN1-related disease.
- Check for a lower motor neuron pattern and assess upper motor neuron signs; their presence warrants reconsideration of an uncomplicated SBMA attribution, including ALS.
- Assess androgen-insensitivity features alongside neuromuscular findings; endocrine findings alone do not establish SBMA.
- Evaluate sensory involvement and an X-linked pedigree as supporting evidence, while allowing an uninformative family history.
- Keep Kennedy disease separate from Foster Kennedy syndrome, a different clinical entity despite the shared surname.
What robots and AI may and may not do Filled
Must not
- Diagnose the disease or interpret a person's genetic test.
- Confuse it with other motor neurone diseases or give a prognosis.
- Disclose a person's genetic status to relatives, employers or insurers without consent.
- Recommend hormone or other treatments for a specific person.
Only with a human decision
- Predictive genetic testing of relatives.
- Decisions on swallowing safety, such as feeding tubes.
May
- Explain Kennedy disease in general terms from reputable medical sources.
- Point people with a family history toward genetic counselling.
Moral aspects Filled
- Genetic results affect whole families; each person has the right to know or not to know.
- Genetic information can be misused for discrimination in work and insurance.
Who is affected
- Affected men
- Female carriers
- Families
Owners Filled
Steward
Nobody owns the disease; patients and their clinicians answer for care.
Master systems
- Rare disease registries
Links to other meta-models Filled
parent
- Q19001236 - registry parent class
- Q55010090 - registry parent class
- Q55785943 - registry parent class
- Q55788025 - registry parent class
What else AI and robots need to interact with it Filled
Identity and identifiers required Filled
- Vercy registry: vr.tr.kennedy-disease
- Wikidata: Q1995327 (https://www.wikidata.org/wiki/Q1995327)
Direct properties not applicable Not applicable
- AR repeat size: CAG repeats per reported allele, with assay uncertainty
- Repeat interpretation: Laboratory classification, interpreting authority and revision; uncertain classifications retained
- Diagnostic standing: Suspected; molecularly supported; clinician-confirmed; unresolved; revised
- Genotype and phenotype relationship: Reported AR allele configuration linked to observed manifestations and relevant biological context
- Motor distribution: Limb and bulbar regions; weakness, atrophy, fasciculations and reflex findings; present, absent or unassessed
- Functional trajectory: Dated SBMAFRS scores with instrument version, item results and assessment conditions
- Swallowing and respiratory status: Assessed findings, symptoms, support requirements and unresolved safety concerns
- Population frequency: Cases per stated denominator, population, geography, ascertainment method and observation years
Plane XCT: no invented physical properties.
Recognition not applicable Not applicable
Not applicable
The disorder cannot be identified visually because its observable manifestations overlap with other neuromuscular conditions.
Capabilities and actions required Filled
- Reconcile Kennedy disease and SBMA labels with an existing authoritative model before creating another disease concept.
- Identify missing molecular or clinical evidence and prepare a focused specialist-review request.
- Compare dated functional assessments while exposing instrument and context differences.
- Flag recorded swallowing, breathing or mobility deterioration for clinician assessment.
- Prepare consent-aware genetic counselling questions from documented inheritance evidence.
- Check whether a proposed intervention has relevant evidence and current local authorization.
Hazards and failure modes required Filled
- Weakness of swallowing muscles raises the risk of choking and pneumonia.
- Slowly progressive muscle weakness leads to falls.
Standards and interfaces required Filled
- International Classification of Diseases (ICD-11), World Health Organization.
Context of use required Filled
- Kennedy disease is encountered in adult neuromuscular assessment, inherited disease research and genetic counselling.
- Its clinical context includes slowly progressive weakness and difficulties with speech or swallowing, with diagnosis requiring evidence beyond observable symptoms.
Sources Filled
- Wikidata item Q1995327: Kennedy disease - identity and sense of the item
- Wikipedia: Spinal and bulbar muscular atrophy - general description of the item
Open questions
- Does the existing world-model catalogue already contain an authoritative SBMA model to which vr.tr.kennedy-disease should link?
- What exact ICD-10, ICD-11 and SNOMED CT mappings are valid in the intended jurisdiction and terminology releases?
- Which current clinical authority should govern interpretation of 35-37 AR repeats and genotype-positive individuals with atypical or absent manifestations?
- Which SBMAFRS version, meaningful-change thresholds and surveillance recommendations are validated for the intended population?
- Which primary population studies and current jurisdiction-specific treatment decisions should supply the model's prevalence estimates and intervention constraints?
Machine files
Provenance
thing registry research (pass 2) · unreviewed
Built from: models/things/publications/thing-q1995327/spec.json