type III spinal muscular atrophy
GPTKB entity
Statements (47)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
motor neurons
|
| gptkbp:associated_with |
fatigue
muscle atrophy respiratory issues scoliosis joint contractures |
| gptkbp:caused_by |
gptkb:SMN1_gene_mutation
|
| gptkbp:clinical_trial |
ongoing
investigating new therapies evaluating drug efficacy |
| gptkbp:community_support |
online forums
patient advocacy groups support networks |
| gptkbp:condition |
gptkb:type_II_spinal_muscular_atrophy
gptkb:type_I_spinal_muscular_atrophy |
| gptkbp:diagnosis |
genetic testing
family history clinical evaluation |
| gptkbp:future_prospects |
improving quality of life
developing new therapies expanding genetic understanding |
| gptkbp:historical_research |
advancements in treatment
understanding of genetic basis discovery of SMN1 |
| https://www.w3.org/2000/01/rdf-schema#label |
type III spinal muscular atrophy
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:lifespan |
normal or near normal
|
| gptkbp:management |
supportive care
assisting with mobility monitoring respiratory function |
| gptkbp:notable_case |
public awareness campaigns
celebrity endorsements notable individuals |
| gptkbp:player_development |
slow
|
| gptkbp:premiered_on |
childhood
|
| gptkbp:prevalence |
1 in 100,000
|
| gptkbp:research |
gptkb:gene_therapy
gptkb:SMN2_gene drug treatments |
| gptkbp:symptoms |
difficulty walking
muscle weakness |
| gptkbp:treatment |
nutritional support
physical therapy occupational therapy |
| gptkbp:bfsParent |
gptkb:SMN1_gene_mutation
|
| gptkbp:bfsLayer |
6
|