facioscapulohumeral muscular dystrophy
Findings
No curated finding names facioscapulohumeral muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.
Definition from the Mondo Disease Ontology (MONDO:0001347), read 2026-09-29. CC BY 4.0.
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- HyperlordosisHPOHP:0003307
- Very frequent (80% to 99% of cases)
- Mask-like faciesHPOHP:0000298
- Very frequent (80% to 99% of cases)
- Progressive muscle weaknessHPOHP:0003323
- Very frequent (80% to 99% of cases)
- Scapular wingingHPOHP:0003691
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Abdominal wall muscle weaknessHPOHP:0009023
- Frequent (30% to 79% of cases)
- Abnormal retinal vascular morphologyHPOHP:0008046
- Frequent (30% to 79% of cases)
- Beevor's signHPOHP:0030664
- Frequent (30% to 79% of cases)
- CamptocormiaHPOHP:0100595
- Frequent (30% to 79% of cases)
- Chronic painHPOHP:0012532
- Frequent (30% to 79% of cases)
- Complete right bundle branch blockHPOHP:0011712
- Frequent (30% to 79% of cases)
Show the remaining 25
- ConjunctivitisHPOHP:0000509
- Frequent (30% to 79% of cases)
- Decreased facial expressionHPOHP:0004673
- Frequent (30% to 79% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
4 names
Resolves to: facioscapulohumeral muscular dystrophy
- Also called
- facioscapulohumeral dystrophyfacioscapulohumeral myopathyFSH dystrophyFSHD