Facioscapulohumeral muscular dystrophy
GPTKB entity
Statements (61)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
muscles
|
| gptkbp:associated_with |
hearing loss
cardiac issues retinal vasculopathy |
| gptkbp:breeding_range |
4q35.2
|
| gptkbp:caused_by |
D4 Z4 repeat contraction
|
| gptkbp:condition |
gptkb:muscular_dystrophy
|
| gptkbp:diagnosis |
genetic testing
family history clinical examination muscle biopsy electromyography |
| gptkbp:difficulty_levels |
varies among individuals
|
| gptkbp:first_described_by |
1884
|
| https://www.w3.org/2000/01/rdf-schema#label |
Facioscapulohumeral muscular dystrophy
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:lifespan |
normal with management
|
| gptkbp:premiered_on |
childhood
adulthood |
| gptkbp:prevalence |
1 in 20,000
|
| gptkbp:research |
ongoing
|
| gptkbp:research_focus |
gptkb:gene_therapy
clinical trials molecular mechanisms |
| gptkbp:symptoms |
fatigue
difficulty walking joint pain muscle weakness foot drop muscle stiffness difficulty climbing stairs muscle cramps muscle wasting difficulty raising arms scoliosis decreased reflexes difficulty with fine motor skills muscle spasms difficulty with balance difficulty with coordination facial muscle weakness difficulty closing eyes difficulty lifting objects difficulty running difficulty smiling difficulty whistling difficulty with endurance difficulty with posture difficulty with speech difficulty with swallowing hip weakness knee weakness pain in muscles scapular winging shoulder muscle weakness |
| gptkbp:treatment |
physical therapy
occupational therapy pain management |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|