Emery-Dreifuss muscular dystrophy

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb: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
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	gptkb:muscular_dystrophy
gptkbp:symptom	gptkb:arrhythmia Achilles tendon contractures elbow contractures neck contractures progressive muscle wasting
gptkbp:treatment	gptkb:cardiac_pacemaker orthopedic surgery physical therapy
gptkbp:bfsParent	gptkb:SYNE2 gptkb:LMNA gptkb:FHL1_(gene)
gptkbp:bfsLayer	8
https://www.w3.org/2000/01/rdf-schema#label	Emery-Dreifuss muscular dystrophy