facioscapulohumeral muscular dystrophy

URI: https://gptkb.org/entity/facioscapulohumeral_muscular_dystrophy
GPTKB entity
Statements (50)
Predicate Object
gptkbp:instanceOf genetic disorder
muscular dystrophy
gptkbp:abbreviation gptkb:FSHD
gptkbp:affects gptkb:skeletal_muscle
facial muscles
humeral muscles
scapular muscles
gptkbp:associatedWith gptkb:Becker_muscular_dystrophy
gptkb:Duchenne_muscular_dystrophy
gptkbp:complication gptkb:retinal_vascular_disease
hearing loss
foot drop
scapular winging
gptkbp:diagnosedBy clinical evaluation
genetic testing
muscle biopsy
gptkbp:firstDescribed 1884
gptkbp:frequency third most common muscular dystrophy
gptkbp:hasEpidemiology worldwide distribution
affects both sexes equally
gptkbp:hasOrphanetID ORPHA:205
https://www.w3.org/2000/01/rdf-schema#label facioscapulohumeral muscular dystrophy
gptkbp:ICD-10_code G71.0
gptkbp:inheritance autosomal dominant
gptkbp:MeSH_ID D020388
gptkbp:mutationAssociatedWith gptkb:DUX4_gene
4q35 region
gptkbp:namedAfter gptkb:humerus
face
scapula
gptkbp:OMIM 158900
gptkbp:onset adolescence
early adulthood
gptkbp:parentOrganization gptkb:FSHD_Society
gptkb:Muscular_Dystrophy_Association
gptkbp:prevalence 1 in 20,000
gptkbp:prognosis variable
normal life expectancy
progressive disability
gptkbp:progression slow
gptkbp:researchInterest gene therapy
epigenetic regulation
muscle regeneration
gptkbp:symptom muscle weakness
muscle wasting
gptkbp:treatment physical therapy
orthopedic devices
surgical intervention
gptkbp:bfsParent gptkb:muscular_dystrophy
gptkbp:bfsLayer 6