Bethlem myopathy
Findings
No curated finding names Bethlem myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.
Definition from the Mondo Disease Ontology (MONDO:0008029), read 2026-09-29. CC BY 4.0.
Features
38 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.
- EMG: myopathic abnormalitiesHPOHP:0003458
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Muscular dystrophyHPOHP:0003560
- Very frequent (80% to 99% of cases)
- Progressive proximal muscle weaknessHPOHP:0009073
- Very frequent (80% to 99% of cases)
- Reduced muscle collagen VIHPOHP:0030095
- Very frequent (80% to 99% of cases)
- Ankle flexion contractureHPOHP:0006466
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Increased muscle lipid contentHPOHP:0009058
- Frequent (30% to 79% of cases)
Show the remaining 26
- Interphalangeal joint contracture of fingerHPOHP:0001220
- Frequent (30% to 79% of cases)
- Limb-girdle muscle weaknessHPOHP:0003325
- Frequent (30% to 79% of cases)
- Multiple joint contracturesHPOHP:0002828
- Frequent (30% to 79% of cases)
- Neck muscle weaknessHPOHP:0000467
- Frequent (30% to 79% of cases)
- Quadriceps muscle weaknessHPOHP:0003731
- Frequent (30% to 79% of cases)
- Wrist flexion contractureHPOHP:0001239
- Frequent (30% to 79% of cases)
Genes
4 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
2 names
Resolves to: Bethlem myopathy
- Also called
- benign autosomal dominant myopathyBethlem myopathy type 1