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