Spinal muscular atrophy (SMA)
GPTKB entity
Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advocacy |
gptkb:SMA_Trust
gptkb:Cure_SMA gptkb:SMA_Europe gptkb:SMA_Foundation MDA |
| gptkbp:associatedWith |
fatigue
difficulty swallowing respiratory issues scoliosis joint contractures |
| gptkbp:causedBy |
SMN1 gene mutation
|
| gptkbp:clinicalTrials |
ongoing
developed |
| gptkbp:community_service |
physical therapy
occupational therapy speech therapy under investigation |
| gptkbp:communitySupport |
crucial
|
| gptkbp:demographics |
1 in 10,000 births
|
| gptkbp:diseaseResistance |
genetic testing
|
| gptkbp:fareSystem |
available
|
| gptkbp:geneticDiversity |
recommended
|
| gptkbp:healthcare |
important
established |
| https://www.w3.org/2000/01/rdf-schema#label |
Spinal muscular atrophy (SMA)
|
| gptkbp:impact |
gptkb:onasemnogene_abeparvovec
quality of life motor neurons nusinersen risdiplam |
| gptkbp:inheritsFrom |
childhood
adulthood infancy |
| gptkbp:introduced |
1940s
|
| gptkbp:legalEvent |
varies by type
improving with treatment |
| gptkbp:nobleFamily |
autosomal recessive
|
| gptkbp:parent |
recommended
|
| gptkbp:publicAccess |
growing
|
| gptkbp:research |
available
ongoing increasing |
| gptkbp:researchFocus |
gene therapy
neuroprotective strategies SMN protein |
| gptkbp:supports |
available
|
| gptkbp:sustainabilityPractices |
important
|
| gptkbp:symptoms |
muscle weakness
muscle wasting |
| gptkbp:type |
gptkb:SMA_type_4
gptkb:SMA_type_2 gptkb:SMA_type_3 gptkb:SMA_type_1 |