Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cardiac arrhythmias
Always present (100%)HP:0011675
Central nuclei
Always present (100%)HP:0003687
Delayed motor milestones
Always present (100%)HP:0001270
Difficulty running
Always present (100%)HP:0009046
Difficulty walking up stairs
Always present (100%)HP:0003551
Eyelid ptosis
Always present (100%)HP:0000508
Increased size of calf muscles
Always present (100%)HP:0008981
Increased variation in muscle fibre size
Always present (100%)HP:0003557
Joint contracture
Always present (100%)HP:0034392
Muscle weakness, generalised
Always present (100%)HP:0003324
Myopathy
Always present (100%)HP:0003198
Severely reduced ejection fraction
Always present (100%)HP:0012666
Stretched and thinned heart muscle
Always present (100%)HP:0001644
Weakness of face
Always present (100%)HP:0030319
Sudden cardiac death
Very frequent (80-99%)HP:0001645
Increased endomysial connective tissue
Frequent (30-79%)HP:0100297
Minicore myopathy
Frequent (30-79%)HP:0003789
Atrioventricular reentrant tachycardia
Occasional (5-29%)HP:0011717
Cardiac insufficiency
Occasional (5-29%)HP:0001635
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Elevated circulating creatine phosphokinase
Occasional (5-29%)HP:0003236
Interruption of electrical communication between upper and lower chambers of heart
Occasional (5-29%)HP:0001678
Mitochondrial depletion
HP:0030059
Quick Facts
- SNOMED CT
- 702343002
- UMLS CUI
- C2673677
- Fully Specified Name
- Early onset myopathy with fatal cardiomyopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.