Trait

Quadriceps weakness

Clinical name: Quadriceps muscle weakness

Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).

HPO HP:0003731

Body system: Abnormality of limbs Abnormality of the musculoskeletal system

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22 genes linked to Quadriceps weakness

Changes in these genes cause rare conditions in which Quadriceps 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.

Gene	How often it is seen	Conditions
PHKA1phosphorylase kinase regulatory subunit alpha 1	Always	In 1 condition
ADSS1adenylosuccinate synthase 1	Often (30–79%)	In 1 condition
ANO5anoctamin 5	Often (30–79%)	In 1 condition
COL12A1collagen type XII alpha 1 chain	Often (30–79%)	In 1 condition
COL6A1collagen type VI alpha 1 chain	Often (30–79%)	In 1 condition
COL6A2collagen type VI alpha 2 chain	Often (30–79%)	In 1 condition
COL6A3collagen type VI alpha 3 chain	Often (30–79%)	In 1 condition
DYSFdysferlin	Often (30–79%)	In 1 condition
GDAP1ganglioside induced differentiation associated protein 1	Often (30–79%)	In 2 conditions
HSPG2heparan sulfate proteoglycan 2	Often (30–79%)	In 1 condition
POLGDNA polymerase gamma, catalytic subunit	Often (30–79%)	In 1 condition
POLG2DNA polymerase gamma 2, accessory subunit	Often (30–79%)	In 1 condition
RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B	Often (30–79%)	In 1 condition
SLC25A4solute carrier family 25 member 4	Often (30–79%)	In 1 condition
TWNKtwinkle mtDNA helicase	Often (30–79%)	In 1 condition
DMDdystrophin	Sometimes (5–29%)	In 1 condition
MFN2mitofusin 2	Sometimes (5–29%)	In 1 condition
TNNT1troponin T1, slow skeletal type	Sometimes (5–29%)	In 1 condition
TTNtitin	Sometimes (5–29%)	In 2 conditions
VCPvalosin containing protein	Sometimes (5–29%)	In 1 condition
GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	Not recorded	In 1 condition
TRIM32tripartite motif containing 32	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.

Broader traits

Proximal lower limb muscle weakness

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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