Duchenne muscular dystrophy

URI: https://gptkb.org/entity/Duchenne_muscular_dystrophy

GPTKB entity

Statements (51)

Predicate	Object
gptkbp:instanceOf	genetic disorder muscular dystrophy
gptkbp:affects	gptkb:skeletal_muscle cardiac muscle
gptkbp:affectsPrimarily	boys
gptkbp:cause	premature death
gptkbp:commonCauseOfDeath	respiratory failure cardiac failure
gptkbp:complication	scoliosis respiratory infections cardiomyopathy
gptkbp:creatineKinaseLevel	elevated
gptkbp:diagnosedBy	genetic testing muscle biopsy creatine kinase test
gptkbp:femaleCarriers	may have mild symptoms
gptkbp:firstDescribed	1860s
gptkbp:frequency	most common childhood muscular dystrophy
https://www.w3.org/2000/01/rdf-schema#label	Duchenne muscular dystrophy
gptkbp:ICD-10_code	G71.0
gptkbp:inheritance	X-linked recessive
gptkbp:lifeExpectancy	20s to 30s
gptkbp:MeSH_ID	D020388
gptkbp:muscleBiopsyFinding	absence of dystrophin
gptkbp:mutationAssociatedWith	gptkb:DMD_gene
gptkbp:namedAfter	gptkb:Guillaume_Duchenne
gptkbp:OMIM	310200
gptkbp:onset	childhood
gptkbp:organization	gptkb:Parent_Project_Muscular_Dystrophy gptkb:Muscular_Dystrophy_Association
gptkbp:prevalence	1 in 3,500 to 5,000 male births
gptkbp:progression	progressive
gptkbp:proteinDeficiency	gptkb:dystrophin
gptkbp:relatedTo	gptkb:Becker_muscular_dystrophy
gptkbp:researchInterest	stem cell therapy gene therapy exon skipping
gptkbp:symptom	muscle weakness difficulty walking enlarged calves frequent falls loss of ambulation
gptkbp:treatment	physical therapy cardiac care corticosteroids ventilatory support
gptkbp:typicalOnsetAge	2 to 5 years
gptkbp:wheelchairUse	by early teens
gptkbp:bfsParent	gptkb:virus gptkb:DMD
gptkbp:bfsLayer	5