Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:disease gptkb:muscular_dystrophy gptkb:rare_disease |
| gptkbp:abbreviation |
gptkb:SMA_type_1
|
| gptkbp:affects |
gptkb:spinal_cord
motor neurons |
| gptkbp:alsoKnownAs |
gptkb:spinal_muscular_atrophy_type_1
|
| gptkbp:causedBy |
mutation in SMN1 gene
|
| gptkbp:firstDescribed |
1891
|
| gptkbp:ICD-10_code |
G12.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
high in early childhood
|
| gptkbp:namedAfter |
gptkb:Guido_Werdnig
gptkb:Johann_Hoffmann |
| gptkbp:OMIM |
253300
|
| gptkbp:onset |
infancy
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
difficulty breathing
hypotonia difficulty swallowing muscle weakness |
| gptkbp:treatment |
gptkb:gene_therapy
gptkb:nusinersen supportive care |
| gptkbp:bfsParent |
gptkb:Guido_Werdnig
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
Werdnig–Hoffmann disease
|