spinal muscular atrophy type 2
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
SMA type 2
|
| gptkbp:complication |
scoliosis
respiratory infections joint contractures |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1891
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
spinal muscular atrophy type 2
|
| gptkbp:ICD-10_code |
G12.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SMN1_gene
|
| gptkbp:namedAfter |
spinal muscular atrophy
|
| gptkbp:OMIM |
253550
|
| gptkbp:onset |
6 to 18 months
|
| gptkbp:prevalence |
1 in 10,000 live births
|
| gptkbp:prognosis |
variable
|
| gptkbp:subclassOf |
spinal muscular atrophy
|
| gptkbp:symptom |
respiratory problems
hypotonia muscle weakness feeding difficulties delayed motor milestones difficulty sitting unaided |
| gptkbp:treatment |
gptkb:nusinersen
gptkb:onasemnogene_abeparvovec gptkb:risdiplam supportive care |
| gptkbp:bfsParent |
gptkb:SMN1
|
| gptkbp:bfsLayer |
6
|