Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
muscular dystrophy
|
| gptkbp:advocacy |
policy changes
fundraising events research funding awareness campaigns Muscular Dystrophy Association Parent Project Muscular Dystrophy |
| gptkbp:associatedWith |
gptkb:cardiomyopathy
learning disabilities respiratory issues scoliosis autism spectrum disorders |
| gptkbp:causedBy |
mutation_in_the_DMD_gene
|
| gptkbp:clinicalTrials |
ongoing
|
| gptkbp:demographics |
1 in 3,500 male births
|
| gptkbp:diseaseResistance |
genetic testing
muscle biopsy |
| gptkbp:firstDescribedBy |
gptkb:Guillaume_Duchenne
|
| gptkbp:geneticDiversity |
recommended
|
| https://www.w3.org/2000/01/rdf-schema#label |
Duchenne muscular dystrophy
|
| gptkbp:impact |
social isolation
gene therapy physical therapy financial burden corticosteroids emotional stress surgical interventions cardiac care respiratory support educational needs caregiver responsibilities primarily boys |
| gptkbp:legalEvent |
shortened lifespan
|
| gptkbp:nobleFamily |
X-linked recessive
|
| gptkbp:notableFeature |
gptkb:Terry_Fox
gptkb:Jesse_C._Smith |
| gptkbp:researchFocus |
CRISPR gene editing
biomarkers therapeutic agents clinical outcomes exon skipping utrophin upregulation |
| gptkbp:screenings |
newborn screening
|
| gptkbp:supports |
available
|
| gptkbp:symptoms |
fatigue
difficulty walking muscle weakness joint contractures loss of ambulation progressive muscle degeneration calf hypertrophy gowers' sign |