spinal muscular atrophy
E24880
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
All labels observed (6)
| Label | Occurrences |
|---|---|
| spinal muscular atrophy canonical | 2 |
| SMA | 1 |
| spinal muscular atrophy type 3 | 1 |
| spinal muscular atrophy type 4 | 1 |
| spinal muscular atrophy type II | 1 |
| spinal muscular atrophy with respiratory distress type 1 | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T195388 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: spinal muscular atrophy Context triple: [Biogen, hasKeyTherapeuticArea, spinal muscular atrophy]
-
A.
MCI-Shirley
MCI-Shirley is a medium- and minimum-security state prison for men located in Shirley, Massachusetts.
-
B.
SSA
SSA is the U.S. federal agency responsible for administering Social Security programs, including retirement, disability, and survivors benefits.
-
C.
CDG
CDG is the IATA airport code for Charles de Gaulle Airport, the main international airport serving Paris and one of Europe’s busiest air hubs.
-
D.
Alzheimer's disease
Alzheimer's disease is a progressive neurodegenerative disorder characterized by memory loss, cognitive decline, and behavioral changes, and is the most common cause of dementia in older adults.
-
E.
MSK
MSK is the standard time zone abbreviation used for Moscow Time, which is three hours ahead of Coordinated Universal Time (UTC+3).
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: spinal muscular atrophy Target entity description: Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
A.
MCI-Shirley
MCI-Shirley is a medium- and minimum-security state prison for men located in Shirley, Massachusetts.
-
B.
SSA
SSA is the U.S. federal agency responsible for administering Social Security programs, including retirement, disability, and survivors benefits.
-
C.
CDG
CDG is the IATA airport code for Charles de Gaulle Airport, the main international airport serving Paris and one of Europe’s busiest air hubs.
-
D.
Alzheimer's disease
Alzheimer's disease is a progressive neurodegenerative disorder characterized by memory loss, cognitive decline, and behavioral changes, and is the most common cause of dementia in older adults.
-
E.
MSK
MSK is the standard time zone abbreviation used for Moscow Time, which is three hours ahead of Coordinated Universal Time (UTC+3).
- F. None of above. chosen
Statements (58)
| Predicate | Object |
|---|---|
| instanceOf |
autosomal recessive disease
ⓘ
genetic disorder ⓘ motor neuron disease ⓘ neuromuscular disease ⓘ |
| affects |
brainstem motor nuclei
ⓘ
motor neurons in the anterior horn of the spinal cord ⓘ |
| alsoKnownAs |
spinal muscular atrophy
ⓘ
surface form:
SMA
|
| characterizedBy |
areflexia or reduced deep tendon reflexes
ⓘ
bulbar dysfunction in severe cases ⓘ hypotonia ⓘ muscle atrophy ⓘ progressive muscle weakness ⓘ proximal muscle weakness ⓘ respiratory muscle weakness ⓘ |
| diagnosedBy |
clinical evaluation of motor milestones
ⓘ
electromyography ⓘ measurement of SMN1 copy number ⓘ molecular genetic testing of SMN1 gene ⓘ nerve conduction studies ⓘ |
| hasCarrierFrequency | approximately 1 in 40 to 1 in 60 in many populations ⓘ |
| hasCause |
deficiency of survival motor neuron protein
ⓘ
mutation in SMN1 gene ⓘ |
| hasComplication |
failure to thrive in infants
ⓘ
feeding difficulties ⓘ joint contractures ⓘ recurrent respiratory infections ⓘ respiratory failure ⓘ scoliosis ⓘ |
| hasModeOfInheritance | autosomal recessive ⓘ |
| hasPrevalence | approximately 1 in 6,000 to 1 in 10,000 live births ⓘ |
| hasPrognosis | variable depending on type and age of onset ⓘ |
| hasRiskFactor | family history of spinal muscular atrophy ⓘ |
| hasSubtype |
spinal muscular atrophy type 0
ⓘ
spinal muscular atrophy type 1 ⓘ spinal muscular atrophy type 2 ⓘ spinal muscular atrophy self-linksurface differs ⓘ
surface form:
spinal muscular atrophy type 3
spinal muscular atrophy self-linksurface differs ⓘ
surface form:
spinal muscular atrophy type 4
spinal muscular atrophy with lower extremity predominance ⓘ spinal muscular atrophy self-linksurface differs ⓘ
surface form:
spinal muscular atrophy with respiratory distress type 1
|
| hasTypicalOnset |
adulthood
ⓘ
childhood ⓘ infancy ⓘ |
| locatedIn |
lower motor neuron system
ⓘ
spinal cord ⓘ |
| preventedBy |
carrier screening in prospective parents
ⓘ
preimplantation genetic testing ⓘ prenatal genetic diagnosis ⓘ |
| regulatedBy | SMN2 gene copy number modifying disease severity ⓘ |
| spares |
cognitive function
ⓘ
sensory neurons ⓘ |
| treatedBy |
Spinraza
ⓘ
surface form:
nusinersen
nutritional support ⓘ occupational therapy ⓘ onasemnogene abeparvovec ⓘ orthopedic interventions for scoliosis and contractures ⓘ physical therapy ⓘ risdiplam ⓘ supportive respiratory care ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: spinal muscular atrophy Description of subject: Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
Referenced by (7)
Full triples — surface form annotated when it differs from this entity's canonical label.
this entity surface form:
spinal muscular atrophy type 3
this entity surface form:
spinal muscular atrophy type 4
this entity surface form:
spinal muscular atrophy with respiratory distress type 1
this entity surface form:
SMA
subject surface form:
Survival motor neuron protein
subject surface form:
Survival motor neuron protein
this entity surface form:
spinal muscular atrophy type II