Trait
Myotonia
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Summary
- Also called
- Delayed relaxation of muscle fibers after contraction, Delayed relaxation of muscle fibres after contraction
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test24 genes linked to Myotonia
Changes in these genes cause rare conditions in which Myotonia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CLCN1chloride voltage-gated channel 1 | Always | In 3 conditions |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 8 conditions |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Very often (80–99%) | In 2 conditions |
| EMDemerin | Very often (80–99%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Very often (80–99%) | In 1 condition |
| HINT1histidine triad nucleotide binding protein 1 | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| LMNAlamin A/C | Very often (80–99%) | In 3 conditions |
| PFKMphosphofructokinase, muscle | Very often (80–99%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Very often (80–99%) | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Very often (80–99%) | In 1 condition |
| TMEM43transmembrane protein 43 | Very often (80–99%) | In 1 condition |
| DMPKDM1 protein kinase | Often (30–79%) | In 2 conditions |
| UCHL1ubiquitin C-terminal hydrolase L1 | Often (30–79%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| TTI2TELO2 interacting protein 2 | Sometimes (5–29%) | In 1 condition |
| VAPBVAMP associated protein B and C | Sometimes (5–29%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Not recorded | In 1 condition |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Not recorded | In 2 conditions |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Not recorded | In 1 condition |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Not recorded | In 1 condition |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Not recorded | In 1 condition |
| LIFRLIF receptor subunit alpha | Not recorded | In 1 condition |
| VMA21vacuolar ATPase assembly factor VMA21 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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