spinal muscular atrophy

E24880

autosomal recessive disease genetic disorder motor neuron disease neuromuscular disease

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.

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All labels observed (10)

Label	Occurrences
spinal muscular atrophy canonical	6
spinal muscular atrophy type II	2
spinal muscular atrophy type IV	2
SMA	1
Type 1 spinal muscular atrophy	1
spinal muscular atrophy type 3	1
spinal muscular atrophy type 4	1
spinal muscular atrophy type I	1
spinal muscular atrophy type III	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	SMA ⓘ linked to: spinal muscular atrophy
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 type 3 ⓘ linked to: spinal muscular atrophy spinal muscular atrophy type 4 ⓘ linked to: spinal muscular atrophy spinal muscular atrophy with lower extremity predominance ⓘ spinal muscular atrophy with respiratory distress type 1 ⓘ linked to: spinal muscular atrophy
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	nusinersen ⓘ linked to: Spinraza nutritional support ⓘ occupational therapy ⓘ onasemnogene abeparvovec ⓘ orthopedic interventions for scoliosis and contractures ⓘ physical therapy ⓘ risdiplam ⓘ supportive respiratory care ⓘ

How these facts were elicited