Spinal Muscular Atrophy

GPTKB entity

Statements (49)
Predicate Object
gptkbp:instanceOf genetic disorder
muscular dystrophy
gptkbp:abbreviation gptkb:SMA
gptkbp:affects motor neurons
gptkbp:category neurodegenerative disease
rare disease
hereditary motor neuropathy
muscular disease
gptkbp:complication respiratory failure
scoliosis
feeding difficulties
gptkbp:containsGene gptkb:SMN1
gptkb:SMN2
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed gptkb:Guido_Werdnig
gptkb:Johann_Hoffmann
gptkbp:frequency rare
gptkbp:hasChildDisease gptkb:Werdnig-Hoffmann_disease
Kugelberg-Welander disease
gptkbp:hasOrphanetID ORPHA:70
gptkbp:hasParentDisease motor neuron disease
muscular atrophy
https://www.w3.org/2000/01/rdf-schema#label Spinal Muscular Atrophy
gptkbp:ICD-10_code G12.0
gptkbp:inheritance autosomal recessive
gptkbp:MeSH_ID D012121
gptkbp:mutationAssociatedWith gptkb:SMN1_gene
gptkbp:OMIM 253300
gptkbp:onset childhood
infancy
adulthood
gptkbp:prevalence 1 in 6,000 to 10,000 live births
gptkbp:researchOrganization gptkb:Cure_SMA
gptkb:SMA_Foundation
gptkbp:riskFactor family history
gptkbp:symptom difficulty breathing
difficulty swallowing
muscle atrophy
muscle weakness
gptkbp:treatment gptkb:nusinersen
gptkb:onasemnogene_abeparvovec
gptkb:risdiplam
gptkbp:type gptkb:Type_0
Type 1
Type 2
Type 3
Type 4
gptkbp:bfsParent gptkb:SMA
gptkbp:bfsLayer 5