potassium-aggravated myotonia
Findings
No curated finding names potassium-aggravated myotonia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.
Definition from the Mondo Disease Ontology (MONDO:0018959), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset · Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- MyotoniaHPOHP:0002486
- 2 of 2 reported patients
- Percussion myotoniaHPOHP:0010548
- 2 of 2 reported patients
- Handgrip myotoniaHPOHP:0012899
- 1 of 2 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 0 of 2 reported patients
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- Narrower terms (3)
Other names
5 names
Resolves to: potassium-aggravated myotonia
- Also called
- K-aggravated myotoniaK+-aggravated myotoniamyotonia congenita, atypical, acetazolamide-responsivePAMPotassium aggravated myotonia