Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delayed motor milestones
Always present (100%)HP:0001270
Malignant hyperthermia
Always present (100%)HP:0002047
Muscle cramps with exertion
Always present (100%)HP:0003710
Muscle stiffness with exercise
Always present (100%)HP:0008967
Difficulty running
Occasional (5-29%)HP:0009046
Abnormal reflex
Excluded (<1%)HP:0031826
Delayed relaxation of muscle fibres after contraction
Excluded (<1%)HP:0002486
EMG: myotonic discharges
Excluded (<1%)HP:0100284
Flexion contractures
Excluded (<1%)HP:0001371
Hypertrophic muscles
Excluded (<1%)HP:0003712
Muscle fasciculation
Excluded (<1%)HP:0002380
Muscle pain
Excluded (<1%)HP:0003326
Muscle weakness
Excluded (<1%)HP:0001324
Myokymia
Excluded (<1%)HP:0002411
Percussion myotonia
Excluded (<1%)HP:0010548
Sensory impairment
Excluded (<1%)HP:0003474
Quick Facts
- SNOMED CT
- 703530005
- UMLS CUI
- C1832918
- Fully Specified Name
- Brody myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.