Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Abnormality of movement
Very frequent (80-99%)HP:0100022
Ataxia
Very frequent (80-99%)HP:0001251
Myopathy
Very frequent (80-99%)HP:0003198
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Cognitive deficits
Frequent (30-79%)HP:0100543
Decreased body height
Frequent (30-79%)HP:0004322
Multiple lipomas
Frequent (30-79%)HP:0001012
Optic atrophy
Frequent (30-79%)HP:0000648
Epilepsy
HP:0001250
Increased blood lactate
HP:0002151
Increased serum pyruvate
HP:0003542
Involuntary jerking movements
HP:0001336
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Muscle weakness
HP:0001324
Myoclonic epilepsy, progressive
HP:0002123
Ragged-red muscle fibers
HP:0003200
Related Conditions
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of nervous system(parent)
Chronic musculoskeletal disorder(parent)
Chronic brain syndrome(parent)
Mitochondrial encephalomyopathy(parent)
Chronic metabolic disease(parent)
Maternally inherited mitochondrial disease(parent)
Generalized epilepsy(parent)
Movement disorder(parent)
Quick Facts
- SNOMED CT
- 230426003
- UMLS CUI
- C0162672
- Fully Specified Name
- Myoclonic epilepsy with ragged red fibers (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.