Overview
Bethlem myopathy is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent tendon reflexes
Always present (100%)HP:0001284
Cavus foot
Always present (100%)HP:0001761
Central nuclei
Always present (100%)HP:0003687
Decreased fetal movement
Always present (100%)HP:0001558
Difficulty walking up stairs
Always present (100%)HP:0003551
Elbow contracture
Always present (100%)HP:0034391
Fatty replacement of skeletal muscle
Always present (100%)HP:0012548
Fiber type grouping
Always present (100%)HP:0033685
Hyperkeratosis follicularis
Always present (100%)HP:0007502
Lower limb atrophy
Always present (100%)HP:0008944
Macroscopic hematuria
Always present (100%)HP:0012587
Muscle fibre necrosis
Always present (100%)HP:0003713
No development of motor milestones
Always present (100%)HP:0001270
Proteinuria
Always present (100%)HP:0000093
Proximal limb muscle weakness
Always present (100%)HP:0003701
Shoulder girdle muscle wasting
Always present (100%)HP:0003724
Walking on tiptoes
Always present (100%)HP:0030051
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
Flexion contractures
Very frequent (80-99%)HP:0001371
Muscle biopsy shows dystrophic changes
Very frequent (80-99%)HP:0003560
Muscle weakness
Very frequent (80-99%)HP:0001324
Muscle weakness, progressive, proximal
Very frequent (80-99%)HP:0009073
Reduced collagen 6 in muscle
Very frequent (80-99%)HP:0030095
Ankle contracture
Frequent (30-79%)HP:0034677
Ankle flexion contracture
Frequent (30-79%)HP:0006466
Difficulty running
Frequent (30-79%)HP:0009046
Finger joint contracture
Frequent (30-79%)HP:0034681
Flaccid neck
Frequent (30-79%)HP:0000467
Gait disturbance
Frequent (30-79%)HP:0001288
Hunched back
Frequent (30-79%)HP:0002808
Quick Facts
- SNOMED CT
- 718572004
- UMLS CUI
- C1834674
- Fully Specified Name
- Bethlem myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.