Overview
Myotonia is a finding that may indicate an underlying health condition requiring clinical evaluation.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Myotonia levior
Frequent (30-79%)
Camptocormia
Very rare (1-4%)
Congenital myotonia, autosomal recessive form
Always present (100%)
Schwartz-Jampel syndrome
Very frequent (80-99%)
Paramyotonia congenita
Frequent (30-79%)
Congenital myotonia, autosomal dominant form
Very frequent (80-99%)
Steinert myotonic dystrophy syndrome
Glycogen storage disease, type VII
Very frequent (80-99%)
Emery-Dreifuss muscular dystrophy
Very frequent (80-99%)
Scapuloperoneal muscular dystrophy
Very frequent (80-99%)
Congenital myotonic dystrophy
Frequent (30-79%)
Stuve-Wiedemann dysplasia
Periodic paralysis II
Frequent (30-79%)
Episodic ataxia type 2
Episodic ataxia type 1
Occasional (5-29%)
Potassium aggravated myotonia
Always present (100%)
Brody myopathy
Excluded (<1%)
Autosomal recessive axonal neuropathy with neuromyotonia
Very frequent (80-99%)
Proximal myotonic myopathy
Very frequent (80-99%)
Familial partial lipodystrophy type 2
Occasional (5-29%)
Myotonia fluctuans
Always present (100%)
Myotonia permanens
Very frequent (80-99%)
Acetazolamide responsive myotonia
Very frequent (80-99%)
X-linked myopathy with excessive autophagy
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
Occasional (5-29%)
Quick Facts
- SNOMED CT
- 3434004
- UMLS CUI
- C0700153
- Fully Specified Name
- Myotonia (finding)
- Associated Conditions
- 25
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.