spinal muscular atrophy type 1

URI: https://gptkb.org/entity/spinal_muscular_atrophy_type_1
GPTKB entity
Statements (34)
Predicate Object
gptkbp:instanceOf genetic disorder
muscular dystrophy
gptkbp:affects motor neurons
gptkbp:alsoKnownAs gptkb:SMA_type_1
gptkb:Werdnig-Hoffmann_disease
gptkbp:category rare disease
pediatric disease
gptkbp:diagnosedBy clinical evaluation
genetic testing
gptkbp:differentialDiagnosis muscular dystrophy
congenital myopathies
gptkbp:firstDescribed gptkb:Guido_Werdnig
gptkb:Johann_Hoffmann
gptkbp:frequency 1 in 10,000 live births
https://www.w3.org/2000/01/rdf-schema#label spinal muscular atrophy type 1
gptkbp:ICD-10_code G12.0
gptkbp:inheritance autosomal recessive
gptkbp:mortalityRate high in early childhood without treatment
gptkbp:muscleInvolvement respiratory muscles
proximal muscles
gptkbp:mutationAssociatedWith gptkb:SMN1_gene
gptkbp:OMIM 253300
gptkbp:onset infancy
gptkbp:prevalence rare
gptkbp:prognosis poor without treatment
gptkbp:symptom difficulty breathing
hypotonia
difficulty swallowing
muscle weakness
gptkbp:treatment gptkb:nusinersen
gptkb:onasemnogene_abeparvovec
supportive care
gptkbp:bfsParent gptkb:SMN1
gptkbp:bfsLayer 6