|
gptkbp:instanceOf
|
gptkb:disease
genetic disorder
motor neuron disease
rare disease
muscular dystrophy
|
|
gptkbp:affects
|
gptkb:skeletal_muscle
infants
motor neurons
|
|
gptkbp:alsoKnownAs
|
gptkb:SMA_type_1
gptkb:spinal_muscular_atrophy_type_1
|
|
gptkbp:category
|
neurological disorder
pediatric disease
|
|
gptkbp:diagnosedBy
|
clinical evaluation
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Guido_Werdnig
gptkb:Johann_Hoffmann
|
|
gptkbp:frequency
|
rare
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Werdnig-Hoffmann disease
|
|
gptkbp:ICD-10_code
|
G12.0
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:mortalityRate
|
high in early childhood
|
|
gptkbp:mutationAssociatedWith
|
gptkb:SMN1_gene
|
|
gptkbp:OMIM
|
253300
|
|
gptkbp:onset
|
infancy
|
|
gptkbp:prognosis
|
poor
|
|
gptkbp:progression
|
gptkb:fire
|
|
gptkbp:symptom
|
respiratory distress
hypotonia
difficulty swallowing
muscle weakness
absent deep tendon reflexes
poor muscle tone
|
|
gptkbp:treatment
|
gptkb:nusinersen
supportive care
physical therapy
gene therapy
respiratory support
|
|
gptkbp:bfsParent
|
gptkb:Spinal_muscular_atrophy
gptkb:Spinal_Muscular_Atrophy
|
|
gptkbp:bfsLayer
|
6
|