Potassium aggravated myotonia

disorder

SNOMED 702355008CUI C2931826

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Delayed relaxation of muscle fibres after contraction

Always present (100%)HP:0002486

Percussion myotonia

Always present (100%)HP:0010548

Grip myotonia

Frequent (30-79%)HP:0012899

Muscle degeneration

Frequent (30-79%)HP:0003202

Elevated circulating creatine phosphokinase

Occasional (5-29%)HP:0003236

Apneic episodes in infancy

HP:0005949

Hypertrophic muscles

HP:0003712

Laryngospasm

HP:0025425

Muscle pain

HP:0003326

Muscle stiffness

HP:0003552

Muscle weakness

Excluded (<1%)HP:0001324

Stridor

HP:0010307

Related Conditions

Acetazolamide responsive myotonia(child)

Myotonia fluctuans(child)

Myotonia permanens(child)

Autosomal dominant hereditary disorder(parent)

Myotonic disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 702355008
UMLS CUI: C2931826
Fully Specified Name: Potassium aggravated myotonia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.