|
gptkbp:instance_of
|
gptkb:muscular_dystrophy
|
|
gptkbp:affects
|
gptkb:children
|
|
gptkbp:associated_with
|
respiratory issues
joint deformities
feeding difficulties
|
|
gptkbp:caused_by
|
gptkb:SMN1_gene_mutation
|
|
gptkbp:clinical_trial
|
gene therapy trials
nusinersen trials
onasemnogene abeparvovec trials
risdiplam trials
|
|
gptkbp:common_age_of_diagnosis
|
6 to 18 months
|
|
gptkbp:condition
|
gptkb:type_III_spinal_muscular_atrophy
gptkb:type_I_spinal_muscular_atrophy
|
|
gptkbp:diagnosis
|
genetic testing
family history
clinical evaluation
neurological examination
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
type II spinal muscular atrophy
|
|
gptkbp:impact
|
gptkb:independence
mobility
quality of life
|
|
gptkbp:inherits_from
|
autosomal recessive
|
|
gptkbp:is_involved_in
|
gptkb:Cure_SMA
gptkb:SMA_Europe
SMA Support UK
|
|
gptkbp:lifespan
|
normal or near normal
|
|
gptkbp:player_development
|
slow
|
|
gptkbp:premiered_on
|
infancy
|
|
gptkbp:prevalence
|
1 in 10,000 live births
|
|
gptkbp:promoter
|
gptkb:SMN2
|
|
gptkbp:research_focus
|
gptkb:gene_therapy
SMN protein levels
|
|
gptkbp:symptoms
|
fatigue
pain
muscle weakness
muscle atrophy
tremors
difficulty in walking
hypotonia
scoliosis
contractures
difficulty in breathing
difficulty in swallowing
delayed motor milestones
|
|
gptkbp:treatment
|
gptkb:onasemnogene_abeparvovec
gptkb:risdiplam
gptkb:nusinersen
physical therapy
supportive care
|
|
gptkbp:bfsParent
|
gptkb:SMN1_gene_mutation
|
|
gptkbp:bfsLayer
|
6
|