Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease muscular dystrophy |
| gptkbp:affects |
motor neurons
muscles |
| gptkbp:alsoKnownAs |
gptkb:Werdnig-Hoffmann_disease
|
| gptkbp:causedBy |
mutation in SMN1 gene
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Guido_Werdnig
gptkb:Johann_Hoffmann |
| gptkbp:frequency |
most common form of SMA in infants
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMA type 1
|
| gptkbp:ICD-10_code |
G12.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:lifeExpectancy |
usually less than 2 years without treatment
|
| gptkbp:onset |
infancy
|
| gptkbp:prognosis |
poor
|
| gptkbp:subspecies |
spinal muscular atrophy
|
| gptkbp:symptom |
difficulty breathing
hypotonia difficulty swallowing muscle weakness |
| gptkbp:treatment |
gptkb:nusinersen
gptkb:onasemnogene_abeparvovec gptkb:risdiplam |
| gptkbp:bfsParent |
gptkb:spinal_muscular_atrophy_type_1
gptkb:Werdnig-Hoffmann_disease |
| gptkbp:bfsLayer |
7
|