|
gptkbp:instanceOf
|
muscular dystrophy
|
|
gptkbp:abbreviation
|
Facioscapulohumeral muscular dystrophy
|
|
gptkbp:affects
|
gptkb:skeletal_muscle
|
|
gptkbp:associatedWith
|
gptkb:DUX4
SMCHD1
|
|
gptkbp:cause
|
genetic disorder
|
|
gptkbp:complication
|
foot drop
difficulty raising arms
difficulty whistling
respiratory insufficiency (rare)
|
|
gptkbp:diagnosedBy
|
genetic testing
muscle biopsy
|
|
gptkbp:firstDescribed
|
1884
|
|
gptkbp:fullName
|
Facioscapulohumeral muscular dystrophy
|
|
gptkbp:hasOrphanetID
|
ORPHA:205
|
|
gptkbp:hasPatientSupportGroup
|
gptkb:Muscular_Dystrophy_UK
gptkb:FSHD_Society
FSH Society
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FSHD
|
|
gptkbp:ICD-10_code
|
G71.0
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
|
|
gptkbp:namedAfter
|
facial, scapular, and humeral muscles
|
|
gptkbp:OMIM
|
158900
|
|
gptkbp:onset
|
adolescence
early adulthood
|
|
gptkbp:parent
|
muscular dystrophy
|
|
gptkbp:prevalence
|
1 in 20,000
|
|
gptkbp:prognosis
|
variable
|
|
gptkbp:progression
|
slowly progressive
|
|
gptkbp:rareDisease
|
true
|
|
gptkbp:relatedTo
|
muscular dystrophy
|
|
gptkbp:researchOrganization
|
gptkb:FSHD_Society
gptkb:Muscular_Dystrophy_Association
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:retinal_vascular_disease
muscle weakness
hearing loss
facial muscle weakness
scapular winging
shoulder muscle weakness
|
|
gptkbp:treatment
|
orthopedic surgery
occupational therapy
physical therapy
|
|
gptkbp:type
|
FSHD1
FSHD2
|
|
gptkbp:bfsParent
|
gptkb:facioscapulohumeral_muscular_dystrophy
|
|
gptkbp:bfsLayer
|
7
|