|
gptkbp:instance_of
|
gptkb:muscular_dystrophy
|
|
gptkbp:advocacy
|
gptkb:fundraising_events
community support
patient advocacy groups
|
|
gptkbp:affects
|
infants
|
|
gptkbp:associated_with
|
muscle atrophy
hypotonia
areflexia
|
|
gptkbp:caused_by
|
gptkb:SMN1_gene_mutation
|
|
gptkbp:clinical_trial
|
ongoing clinical trials
|
|
gptkbp:diagnosis
|
genetic testing
family history
clinical evaluation
electromyography
|
|
gptkbp:difficulty_levels
|
most severe form of SMA
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
type I spinal muscular atrophy
|
|
gptkbp:impact
|
affects motor neuron function
|
|
gptkbp:inherits_from
|
autosomal recessive
|
|
gptkbp:is_involved_in
|
gptkb:Cure_SMA
gptkb:Muscular_Dystrophy_Association
gptkb:SMA_Foundation
|
|
gptkbp:known_as
|
gptkb:Werdnig-Hoffmann_disease
|
|
gptkbp:lifespan
|
shortened life expectancy
|
|
gptkbp:player_development
|
rapid progression
|
|
gptkbp:prevalence
|
1 in 10,000 live births
|
|
gptkbp:public_awareness
|
SMA Awareness Month
SMA Research Day
|
|
gptkbp:research
|
ongoing research for treatments
|
|
gptkbp:research_focus
|
gptkb:gene_therapy
neuroprotective strategies
SMN protein levels
|
|
gptkbp:symptoms
|
muscle weakness
difficulty in breathing
difficulty in swallowing
before 6 months of age
|
|
gptkbp:treatment
|
gptkb:onasemnogene_abeparvovec
gptkb:nusinersen
supportive care
|
|
gptkbp:type
|
neuromuscular disorder
|
|
gptkbp:bfsParent
|
gptkb:SMN1_gene_mutation
|
|
gptkbp:bfsLayer
|
6
|