spinal muscular atrophy type 1

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:muscular_dystrophy
gptkbp:affects	motor neurons
gptkbp:alsoKnownAs	gptkb:SMA_type_1 gptkb:Werdnig-Hoffmann_disease
gptkbp:category	gptkb:rare_disease pediatric disease
gptkbp:diagnosedBy	clinical evaluation genetic testing
gptkbp:differentialDiagnosis	gptkb:muscular_dystrophy congenital myopathies
gptkbp:firstDescribed	gptkb:Guido_Werdnig gptkb:Johann_Hoffmann
gptkbp:frequency	1 in 10,000 live births
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 gptkb:SMN1_gene gptkb:Werdnig-Hoffmann_disease
gptkbp:bfsLayer	7
https://www.w3.org/2000/01/rdf-schema#label	spinal muscular atrophy type 1