Facioscapulohumeral Muscular Dystrophy
GPTKB entity
Statements (57)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
muscles of the face
shoulder muscles upper arm muscles |
| gptkbp:associated_with |
DUX4 gene
|
| gptkbp:caused_by |
D4 Z4 repeat contraction
|
| gptkbp:clinical_trial |
available
|
| gptkbp:community |
support groups
advocacy organizations |
| gptkbp:condition |
myopathies
other muscular dystrophies |
| gptkbp:diagnosis |
genetic testing
clinical examination |
| gptkbp:financial_support |
available
|
| gptkbp:first_described_by |
1884
|
| gptkbp:genetic_studies |
recommended
|
| https://www.w3.org/2000/01/rdf-schema#label |
Facioscapulohumeral Muscular Dystrophy
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:lifespan |
normal lifespan
|
| gptkbp:player_development |
variable
|
| gptkbp:premiered_on |
adolescence
|
| gptkbp:prevalence |
1 in 20,000
|
| gptkbp:public_awareness |
important
|
| gptkbp:research |
ongoing
|
| gptkbp:research_focus |
gptkb:gene_therapy
symptom management molecular mechanisms |
| gptkbp:symptoms |
gptkb:depression
anxiety fatigue social isolation vision problems hearing loss muscle weakness muscle atrophy respiratory issues difficulty with daily activities scoliosis difficulty with balance difficulty with coordination cardiac issues joint problems difficulty smiling difficulty whistling difficulty with speech difficulty with swallowing facial weakness pain in muscles scapular winging difficulty lifting arms difficulty with breathing difficulty with mobility |
| gptkbp:treatment |
physical therapy
occupational therapy pain management |
| gptkbp:bfsParent |
gptkb:Muscular_Dystrophy
|
| gptkbp:bfsLayer |
9
|