Overview
Myotonia fluctuans 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
Always present (100%)HP:0002486
Percussion myotonia
Always present (100%)HP:0010548
EMG: myotonic discharges
Very frequent (80-99%)HP:0100284
Muscle stiffness
Very frequent (80-99%)HP:0003552
Muscle atrophy, neurogenic
Frequent (30-79%)HP:0003202
Muscle stiffness with exercise
Frequent (30-79%)HP:0008967
Myotonia of the lower limb
Frequent (30-79%)HP:0012902
Myotonia of the upper limb
Frequent (30-79%)HP:0012903
Spasticity of facial muscles
Frequent (30-79%)HP:0002491
Blurred vision
Occasional (5-29%)HP:0000622
Double vision
Occasional (5-29%)HP:0000651
Elevated circulating creatine phosphokinase
Occasional (5-29%)HP:0003236
Grip myotonia
Occasional (5-29%)HP:0012899
Muscle pain
Occasional (5-29%)HP:0003326
Myotonia of the face
Occasional (5-29%)HP:0012900
Tiredness
Occasional (5-29%)HP:0012378
Apnea
Very rare (1-4%)HP:0002104
Choking episodes
Very rare (1-4%)HP:0030842
Gait disturbance
Very rare (1-4%)HP:0001288
Hypotonia, in neonatal onset
Very rare (1-4%)HP:0001319
Laryngospasm
Very rare (1-4%)HP:0025425
Myotonia with warm-up phenomenon
Very rare (1-4%)HP:0003740
Proximal limb muscle weakness
Very rare (1-4%)HP:0003701
Squint
Very rare (1-4%)HP:0000486
Stridor
Very rare (1-4%)HP:0010307
Apneic episodes in infancy
HP:0005949
Hypertrophic muscles
HP:0003712
Muscle weakness
Excluded (<1%)HP:0001324
Related Conditions
Quick Facts
- SNOMED CT
- 715788001
- UMLS CUI
- C0752355
- Fully Specified Name
- Myotonia fluctuans (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.