Statements (59)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:advocacy |
gptkb:fundraising_events
awareness campaigns policy initiatives |
| gptkbp:affects |
primarily boys
|
| gptkbp:associated_with |
gptkb:Cardiology
fatigue respiratory issues muscle cramps scoliosis gait abnormalities |
| gptkbp:caused_by |
mutation in the DMD gene
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:community_impact |
influences healthcare policies
drives research initiatives affects families worldwide |
| gptkbp:complications |
obesity
learning disabilities joint contractures |
| gptkbp:diagnosis |
genetic testing
muscle biopsy |
| gptkbp:emergency_services |
respiratory support
cardiac monitoring |
| gptkbp:financial_support |
gptkb:educational_resources
counseling services support groups |
| gptkbp:first_described_by |
gptkb:Guillaume_Duchenne
|
| gptkbp:funding |
government grants
private donations philanthropic organizations |
| gptkbp:genetic_studies |
prenatal testing
carrier testing |
| gptkbp:historical_significance |
first muscular dystrophy identified
|
| https://www.w3.org/2000/01/rdf-schema#label |
Duchenne muscular dystrophy
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:is_involved_in |
gptkb:Muscular_Dystrophy_Association
gptkb:Duchenne_UK Parent Project Muscular Dystrophy |
| gptkbp:is_tested_for |
electromyography
MRI of muscles creatine kinase test |
| gptkbp:lifespan |
shortened lifespan
|
| gptkbp:prevalence |
1 in 3,500 male births
|
| gptkbp:progression_rate |
varies by individual
|
| gptkbp:research_focus |
gene editing
exon skipping utrophin upregulation |
| gptkbp:symptoms |
difficulty walking
muscle weakness early childhood progressive muscle degeneration |
| gptkbp:treatment |
gptkb:gene_therapy
improve quality of life physical therapy corticosteroids maintain mobility manage complications |
| gptkbp:bfsParent |
gptkb:Sangamo_Therapeutics
|
| gptkbp:bfsLayer |
4
|