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Trait

Hand muscle degeneration

Clinical name: Hand muscle atrophy

Muscular atrophy involving the muscles of the hand.

HPO HP:0009130

Summary

Also called
Amyotrophy involving the musculature of the hand, Amyotrophy of hand muscles, Hand muscle wasting, Hand muscle wasting, bilateral
Body system
Abnormality of limbsAbnormality of the musculoskeletal system

20 genes linked to Hand muscle degeneration

Changes in these genes cause rare conditions in which Hand muscle degeneration 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
ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15AlwaysIn 1 condition
MARS1methionyl-tRNA synthetase 1AlwaysIn 1 condition
SCO2synthesis of cytochrome C oxidase 2AlwaysIn 1 condition
SLC25A21solute carrier family 25 member 21AlwaysIn 1 condition
TFGtrafficking from ER to golgi regulatorAlwaysIn 1 condition
FXNfrataxinVery often (80–99%)In 1 condition
BSCL2BSCL2 lipid droplet biogenesis associated, seipinOften (30–79%)In 1 condition
CHRNA1cholinergic receptor nicotinic alpha 1 subunitOften (30–79%)In 1 condition
GDAP1ganglioside induced differentiation associated protein 1Often (30–79%)In 1 condition
LMNAlamin A/COften (30–79%)In 1 condition
NEFLneurofilament light chainOften (30–79%)In 2 conditions
PMP22peripheral myelin protein 22Often (30–79%)In 1 condition
VCPvalosin containing proteinOften (30–79%)In 1 condition
HINT1histidine triad nucleotide binding protein 1Sometimes (5–29%)In 1 condition
TNXBtenascin XBRarely (1–4%)In 1 condition
ACTA1actin alpha 1, skeletal muscleNot recordedIn 1 condition
ALS2alsin Rho guanine nucleotide exchange factor ALS2Not recordedIn 1 condition
DCTN1dynactin subunit 1Not recordedIn 1 condition
SLC52A3solute carrier family 52 member 3Not recordedIn 1 condition
TRPV4transient receptor potential cation channel subfamily V member 4Not recordedIn 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.

Narrower traits

Broader traits

Abnormal hand musclesDistal upper limb amyotrophy

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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