Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cold paresis
Frequent (30-79%)HP:0031372
Cold-sensitive myotonia
Frequent (30-79%)HP:0012904
Deglutition disorder
Frequent (30-79%)HP:0002015
Delayed relaxation of muscle fibres after contraction
Frequent (30-79%)HP:0002486
Grip myotonia
Frequent (30-79%)HP:0012899
Hypotonia, in neonatal onset
Frequent (30-79%)HP:0001319
Large facial muscles
Frequent (30-79%)HP:0012892
Muscle pain
Frequent (30-79%)HP:0003326
Muscle stiffness
Frequent (30-79%)HP:0003552
Myotonia of the face
Frequent (30-79%)HP:0012900
Myotonia of the jaw
Frequent (30-79%)HP:0012901
Myotonia of the upper limb
Frequent (30-79%)HP:0012903
Neonatal inspiratory stridor
Frequent (30-79%)HP:0004875
Paradoxical myotonia
Frequent (30-79%)HP:0011809
Percussion myotonia
Frequent (30-79%)HP:0010548
Abnormal blood K concentration
Occasional (5-29%)HP:0011042
EMG: myopathic changes
Occasional (5-29%)HP:0003458
Periodic hypokalemic paresis
Occasional (5-29%)HP:0008153
Feeding difficulties
HP:0011968
Hypertrophic muscles
HP:0003712
Inspiratory stridor
HP:0005348
Muscle weakness
HP:0001324
Related Conditions
Quick Facts
- SNOMED CT
- 41574007
- UMLS CUI
- C0221055
- Fully Specified Name
- Paramyotonia congenita (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.