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Emery-Dreifuss muscular dystrophy
URI:
https://gptkb.org/entity/Emery-Dreifuss_muscular_dystrophy
GPTKB entity
Statements (42)
Predicate
Object
gptkbp:instanceOf
genetic disorder
muscular dystrophy
gptkbp:affects
gptkb:skeletal_muscle
cardiac muscle
gptkbp:affectsGender
females
males
gptkbp:alsoKnownAs
gptkb:EDMD
gptkbp:characterizedBy
muscle weakness
joint contractures
cardiac conduction defects
gptkbp:complication
sudden cardiac death
gptkbp:diagnosedBy
genetic testing
muscle biopsy
electrocardiogram
gptkbp:firstDescribed
gptkb:Alan_E._H._Emery
gptkb:Fritz_Dreifuss
1966
gptkbp:hasOrphanetID
ORPHA:177
https://www.w3.org/2000/01/rdf-schema#label
Emery-Dreifuss muscular dystrophy
gptkbp:inheritance
autosomal dominant
X-linked recessive
autosomal recessive
gptkbp:mutationAssociatedWith
gptkb:EMD_gene
gptkb:FHL1_gene
gptkb:LMNA_gene
gptkbp:OMIM
181350
gptkbp:onset
childhood
adolescence
gptkbp:prevalence
rare
gptkbp:prognosis
variable
gptkbp:progression
slow
gptkbp:relatedTo
muscular dystrophy
gptkbp:symptom
gptkb:arrhythmia
Achilles tendon contractures
elbow contractures
neck contractures
progressive muscle wasting
gptkbp:treatment
orthopedic surgery
physical therapy
cardiac pacemaker
gptkbp:bfsParent
gptkb:muscular_dystrophy
gptkbp:bfsLayer
6