infantile spinal muscular atrophy
GPTKB entity
Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:advocacy |
patient organizations
|
| gptkbp:affects |
infants
|
| gptkbp:associated_with |
respiratory issues
hypotonia scoliosis feeding difficulties |
| gptkbp:caused_by |
gptkb:SMN1_gene_mutation
|
| gptkbp:clinical_trial |
available
|
| gptkbp:community_impact |
financial burden
caregiver responsibilities significant emotional stress |
| gptkbp:diagnosis |
genetic testing
varies by type |
| gptkbp:discovery |
1990s
|
| gptkbp:funding |
non-profit organizations
government grants private donations |
| https://www.w3.org/2000/01/rdf-schema#label |
infantile spinal muscular atrophy
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:is_involved_in |
available
|
| gptkbp:lifespan |
varies
|
| gptkbp:notable_case |
notable individuals
|
| gptkbp:prevalence |
1 in 10,000 births
|
| gptkbp:promoter |
gptkb:SMN2
gptkb:SMN1 |
| gptkbp:public_awareness |
gptkb:educational_campaigns
gptkb:fundraising_events |
| gptkbp:research |
ongoing
|
| gptkbp:screenings |
newborn screening
|
| gptkbp:symptoms |
muscle weakness
muscle wasting before 6 months difficulty in movement |
| gptkbp:treatment |
gptkb:gene_therapy
medications nutritional support physical therapy supportive care occupational therapy speech therapy respiratory support |
| gptkbp:type |
gptkb:Type_4
gptkb:Type_3 Type 1 Type 2 |
| gptkbp:bfsParent |
gptkb:SMN1_gene
|
| gptkbp:bfsLayer |
6
|