spinal muscular atrophy type 2
GPTKB entity
Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:advocacy |
patient education
awareness campaigns fundraising efforts |
| gptkbp:affects |
motor neurons
|
| gptkbp:associated_with |
respiratory issues
scoliosis joint contractures |
| gptkbp:caused_by |
gptkb:SMN1_gene_mutation
|
| gptkbp:clinical_trial |
ongoing studies
gene therapy trials drug efficacy studies |
| gptkbp:condition |
gptkb:spinal_muscular_atrophy_type_3
gptkb:spinal_muscular_atrophy_type_1 |
| gptkbp:diagnosis |
genetic testing
family history clinical evaluation neurological examination varies by severity |
| gptkbp:genetic_studies |
SMN2 gene copy number
SMN1 gene analysis |
| https://www.w3.org/2000/01/rdf-schema#label |
spinal muscular atrophy type 2
|
| gptkbp:impact |
employment opportunities
quality of life educational opportunities daily living activities social interactions financial burden family dynamics access to resources healthcare needs emotional health mobility limitations |
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:is_involved_in |
gptkb:Cure_SMA
gptkb:SMA_Foundation SMA Support Network |
| gptkbp:premiered_on |
childhood
|
| gptkbp:prevalence |
1 in 10,000 live births
|
| gptkbp:research_focus |
therapeutic interventions
SMN protein levels |
| gptkbp:symptoms |
muscle weakness
muscle wasting |
| gptkbp:treatment |
gptkb:gene_therapy
gptkb:nusinersen supportive care |
| gptkbp:bfsParent |
gptkb:Nusinersen
|
| gptkbp:bfsLayer |
5
|