Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
muscular dystrophy
|
| gptkbp:advocacy |
fundraising events
patient registries awareness campaigns policy initiatives |
| gptkbp:associatedWith |
gptkb:Becker_muscular_dystrophy
gptkb:cardiomyopathy learning disabilities scoliosis |
| gptkbp:causedBy |
mutation_in_the_DMD_gene
|
| gptkbp:characterDevelopment |
rapid
|
| gptkbp:clinicalTrials |
ongoing
|
| gptkbp:complications |
sudden cardiac death
infection risk contractures pulmonary complications |
| gptkbp:demographics |
1 in 3,500 male births
|
| gptkbp:diseaseResistance |
genetic testing
muscle biopsy |
| gptkbp:firstDescribedBy |
1868
|
| gptkbp:geneticDiversity |
X-linked recessive
|
| https://www.w3.org/2000/01/rdf-schema#label |
Duchenne Muscular Dystrophy
|
| gptkbp:impact |
gene therapy
physical therapy corticosteroids cardiac care primarily boys |
| gptkbp:inheritsFrom |
early childhood
|
| gptkbp:legalEvent |
shortened lifespan
|
| gptkbp:namedAfter |
gptkb:Guillaume_Duchenne
|
| gptkbp:notableFeature |
gptkb:Kaden_McKenzie
gptkb:Kylie_McKenzie gptkb:Kurtis_McKenzie Jett Travolta Kieran McKenzie |
| gptkbp:providesServices |
gptkb:Duchenne_Research_Fund
gptkb:Duchenne_UK Muscular Dystrophy Association Parent Project Muscular Dystrophy |
| gptkbp:researchFocus |
gptkb:antisense_oligonucleotides
CRISPR gene editing exon skipping utrophin upregulation |
| gptkbp:sportsTeam |
proximal muscles
distal_muscles pelvic_muscles shoulder_muscles |
| gptkbp:symptoms |
difficulty walking
muscle weakness heart problems respiratory issues |