myotonia permanens
MONDO:0020482Mondo
Findings
No curated finding names myotonia permanens yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).
Definition from the Mondo Disease Ontology (MONDO:0020482), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Muscle spasmHPOHP:0003394
- Very frequent (80% to 99% of cases)
- MyotoniaHPOHP:0002486
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Frequent (30% to 79% of cases)
- Abnormality of the voiceHPOHP:0001608
- Occasional (5% to 29% of cases)
- AsthmaHPOHP:0002099
- Occasional (5% to 29% of cases)
- Chest painHPOHP:0100749
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- DyspneaHPOHP:0002094
- Occasional (5% to 29% of cases)
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- Generalized muscle hypertrophyHPOHP:0003720
- Occasional (5% to 29% of cases)
Show the remaining 9
- HyperlordosisHPOHP:0003307
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Occasional (5% to 29% of cases)
- Muscle weaknessHPOHP:0001324
- Occasional (5% to 29% of cases)
- MyalgiaHPOHP:0003326
- Occasional (5% to 29% of cases)
- OphthalmoparesisHPOHP:0000597
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCN4AHGNC:10591
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of