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Trait

Episodic flaccid weakness

Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.

HPO HP:0003752

Summary

Body system
Abnormality of the musculoskeletal system

7 genes linked to Episodic flaccid weakness

Changes in these genes cause rare conditions in which Episodic flaccid weakness 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.

GeneHow often it is seenConditions
CACNA1Scalcium voltage-gated channel subunit alpha1 SAlwaysIn 3 conditions
SCN4Asodium voltage-gated channel alpha subunit 4AlwaysIn 5 conditions
GABRA3gamma-aminobutyric acid type A receptor subunit alpha3Very often (80–99%)In 1 condition
KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3Very often (80–99%)In 1 condition
KCNJ18potassium inwardly rectifying channel subfamily J member 18Very often (80–99%)In 1 condition
KCNJ2potassium inwardly rectifying channel subfamily J member 2Very often (80–99%)In 1 condition
KCNJ5potassium inwardly rectifying channel subfamily J member 5Very often (80–99%)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.

Broader traits

Muscle flaccidity

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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