Trait

Leg dystonia

A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.

HPO HP:0031959

Body system: Abnormality of the nervous system

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9 genes linked to Leg dystonia

Changes in these genes cause rare conditions in which Leg dystonia 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
ACTBactin beta	Always	In 1 condition
AOPEPaminopeptidase O (putative)	Very often (80–99%)	In 1 condition
FTLferritin light chain	Often (30–79%)	In 1 condition
KMT2Blysine methyltransferase 2B	Often (30–79%)	In 1 condition
NUP54nucleoporin 54	Often (30–79%)	In 1 condition
PARK7Parkinsonism associated deglycase	Often (30–79%)	In 1 condition
GFM2GTP dependent ribosome recycling factor mitochondrial 2	Sometimes (5–29%)	In 1 condition
SGCEsarcoglycan epsilon	Sometimes (5–29%)	In 1 condition
VPS16VPS16 core subunit of CORVET and HOPS complexes	Sometimes (5–29%)	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

Limb dystonia

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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