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gptkbp:instance_of
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gptkb:muscular_dystrophy
|
|
gptkbp:advocacy
|
gptkb:SMA_Trust
gptkb:SMA_UK
gptkb:SMA_Europe
gptkb:SMA_Australia
gptkb:SMA_Canada
|
|
gptkbp:caused_by
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gptkb:SMN1_gene_mutation
|
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gptkbp:clinical_trial
|
gptkb:Phase_4
Phase 1
Phase 2
Phase 3
respiratory failure
hypotonia
scoliosis
joint contractures
poor weight gain
fasciculations
feeding difficulties
|
|
gptkbp:diagnosis
|
genetic testing
shortened lifespan
|
|
gptkbp:family_planning
|
important consideration
|
|
gptkbp:funding
|
gptkb:NIH
pharmaceutical companies
private foundations
|
|
gptkbp:genetic_studies
|
recommended
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
spinal muscular atrophy type 1
|
|
gptkbp:impact_on_mobility
|
severe
|
|
gptkbp:inherits_from
|
autosomal recessive
|
|
gptkbp:is_affected_by
|
infants
|
|
gptkbp:is_involved_in
|
gptkb:Cure_SMA
gptkb:Muscular_Dystrophy_Association
gptkb:SMA_Foundation
|
|
gptkbp:notable_production
|
delayed motor milestones
|
|
gptkbp:originated_in
|
gptkb:SMN2
gptkb:SMN1
|
|
gptkbp:premiered_on
|
infancy
|
|
gptkbp:prevalence
|
1 in 10,000 live births
|
|
gptkbp:research_areas
|
biomarkers
patient registries
therapeutic strategies
longitudinal studies
natural history studies
|
|
gptkbp:research_focus
|
gptkb:gene_therapy
clinical trials
|
|
gptkbp:side_effect
|
gptkb:significant
|
|
gptkbp:symptoms
|
respiratory problems
muscle weakness
difficulty swallowing
|
|
gptkbp:treatment
|
gptkb:onasemnogene_abeparvovec
gptkb:nusinersen
supportive care
|
|
gptkbp:bfsParent
|
gptkb:Nusinersen
|
|
gptkbp:bfsLayer
|
5
|