Trait

Neuromyotonia

Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness.

HPO HP:0034351

Also called: Peripheral nerve hyperexcitability
Body system: Abnormality of the nervous system

This page as data

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page <- fromJSON(url)
page$trait$name

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1 gene linked to Neuromyotonia

Changes in these genes cause rare conditions in which Neuromyotonia 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
HINT1histidine triad nucleotide binding protein 1	Very 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

Abnormal peripheral nervous system physiology

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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