Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:alsoKnownAs |
gptkb:SMA
spinal muscular atrophy type 1-4 |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1891
|
| gptkbp:frequency |
1 in 6,000 to 10,000 live births
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
chromosome 5q13
|
| gptkbp:mutationAssociatedWith |
gptkb:SMN1_gene
|
| gptkbp:namedAfter |
spinal motor neurons
|
| gptkbp:onset |
childhood
infancy adulthood |
| gptkbp:prognosis |
variable
|
| gptkbp:riskFactor |
family history
|
| gptkbp:subspecies |
gptkb:SMA_type_1
SMA type 2 SMA type 3 SMA type 4 |
| gptkbp:symptom |
difficulty swallowing
muscle atrophy muscle weakness respiratory difficulties reduced motor function |
| gptkbp:treatment |
gptkb:nusinersen
gptkb:onasemnogene_abeparvovec gptkb:risdiplam supportive care |
| gptkbp:bfsParent |
gptkb:nusinersen
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
5q spinal muscular atrophy
|