Overview
Myotonia permanens 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.
Delayed relaxation of muscle fibres after contraction
Very frequent (80-99%)HP:0002486
Hypertonia
Very frequent (80-99%)HP:0001276
Muscle spasm
Very frequent (80-99%)HP:0003394
Abnormal electromyography finding
Frequent (30-79%)HP:0003457
Chest pain
Occasional (5-29%)HP:0100749
Decreased body height
Occasional (5-29%)HP:0004322
Deglutition disorder
Occasional (5-29%)HP:0002015
Difficulty breathing
Occasional (5-29%)HP:0002094
Extraocular muscle palsy
Occasional (5-29%)HP:0000597
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Gait disturbance
Occasional (5-29%)HP:0001288
Generalized muscle hypertrophy
Occasional (5-29%)HP:0003720
Hypertrophic muscles
Occasional (5-29%)HP:0003712
Limitation of joint mobility
Occasional (5-29%)HP:0001376
Mental deficiency
Occasional (5-29%)HP:0001249
Muscle pain
Occasional (5-29%)HP:0003326
Muscle weakness
Occasional (5-29%)HP:0001324
Palpebronasal fold
Occasional (5-29%)HP:0000286
Prominent swayback
Occasional (5-29%)HP:0003307
Reactive airway disease
Occasional (5-29%)HP:0002099
Voice abnormality
Occasional (5-29%)HP:0001608
Related Conditions
Quick Facts
- SNOMED CT
- 715789009
- UMLS CUI
- C5848361
- Fully Specified Name
- Myotonia permanens (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.