Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder rare disease muscular dystrophy |
| 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
|
| 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: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:nusinersen
supportive care gene therapy |
| gptkbp:bfsParent |
gptkb:Valery_Spiridonov
gptkb:Guido_Werdnig |
| gptkbp:bfsLayer |
7
|