Overview
Acetazolamide responsive myotonia 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 pain
Very frequent (80-99%)HP:0003326
Abnormal electromyography finding
Frequent (30-79%)HP:0003457
Chest pain
Frequent (30-79%)HP:0100749
Muscle spasm
Frequent (30-79%)HP:0003394
Deglutition disorder
Occasional (5-29%)HP:0002015
Extraocular muscle palsy
Occasional (5-29%)HP:0000597
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Gait disturbance
Occasional (5-29%)HP:0001288
Hypertrophic muscles
Occasional (5-29%)HP:0003712
Hypothyroidism
Occasional (5-29%)HP:0000821
Related Conditions
Quick Facts
- SNOMED CT
- 715793003
- UMLS CUI
- C4275008
- Fully Specified Name
- Acetazolamide responsive 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.