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Trait
Weakness of outermost muscles
Clinical name: Distal muscle weakness
Reduced strength of the musculature of the distal extremities.
Summary
- Also called
- Distal limb muscle weakness, Distal limb weakness, Distal muscular weakness, Distal paresis, Muscle weakness, distal, Muscle weakness, distal limbs, due to neuronopathy, Weakness of distal muscles
- Body system
- Abnormality of the musculoskeletal system
Weakness of outermost musclesHP:0002460
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Read the genes linked to Weakness of outermost muscles, and the rest of your genome, with one test.
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Get my Genome Test176 genes linked to Weakness of outermost muscles
Changes in these genes cause rare conditions in which Weakness of outermost muscles 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 |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Always | In 1 condition |
| ARHGAP19Rho GTPase activating protein 19 | Always | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Always | In 1 condition |
| CHP1calcineurin like EF-hand protein 1 | Always | In 1 condition |
| COL13A1collagen type XIII alpha 1 chain | Always | In 2 conditions |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Always | In 1 condition |
| DNM2dynamin 2 | Always | In 2 conditions |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Always | In 1 condition |
| EGR2early growth response 2 | Always | In 3 conditions |
| GARS1glycyl-tRNA synthetase 1 | Always | In 3 conditions |
| GDAP1ganglioside induced differentiation associated protein 1 | Always | In 5 conditions |
| GIPC1GIPC PDZ domain containing family member 1 | Always | In 1 condition |
| GJB1gap junction protein beta 1 | Always | In 1 condition |
| HSPB1heat shock protein family B (small) member 1 | Always | In 1 condition |
| INF2inverted formin 2 | Always | In 1 condition |
| ISCUiron-sulfur cluster assembly enzyme | Always | In 1 condition |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 2 conditions |
| LMNAlamin A/C | Always | In 3 conditions |
| MARS1methionyl-tRNA synthetase 1 | Always | In 1 condition |
| MATR3matrin 3 | Always | In 2 conditions |
| MCM3APminichromosome maintenance complex component 3 associated protein | Always | In 1 condition |
| MFN2mitofusin 2 | Always | In 2 conditions |
| MPZmyelin protein zero | Always | In 6 conditions |
| MTMR14myotubularin related protein 14 | Always | In 1 condition |
| MYH14myosin heavy chain 14 | Always | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Always | In 1 condition |
| NDC1NDC1 transmembrane nucleoporin | Always | In 1 condition |
| NDRG1N-myc downstream regulated 1 | Always | In 2 conditions |
| NEFLneurofilament light chain | Always | In 5 conditions |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Always | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Always | In 1 condition |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Always | In 1 condition |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Always | In 2 conditions |
| PMP2peripheral myelin protein 2 | Always | In 1 condition |
| PMP22peripheral myelin protein 22 | Always | In 5 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Always | In 4 conditions |
| PTRH2peptidyl-tRNA hydrolase 2 | Always | In 2 conditions |
| REEP1receptor accessory protein 1 | Always | In 1 condition |
| RILPL1Rab interacting lysosomal protein like 1 | Always | In 1 condition |
Show 136 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| RPS6KC1ribosomal protein S6 kinase C1 | Always | In 1 condition |
| SBF2SET binding factor 2 | Always | In 1 condition |
| SCYL1SCY1 like pseudokinase 1 | Always | In 1 condition |
| SETXsenataxin | Always | In 3 conditions |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Always | In 2 conditions |
| SIGMAR1sigma receptor chaperone 1 | Always | In 2 conditions |
| SLC25A19solute carrier family 25 member 19 | Always | In 1 condition |
| SLC25A21solute carrier family 25 member 21 | Always | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Always | In 2 conditions |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Always | In 1 condition |
| SPTBN4spectrin beta, non-erythrocytic 4 | Always | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Always | In 3 conditions |
| TYMPthymidine phosphorylase | Always | In 2 conditions |
| XRCC1X-ray repair cross complementing 1 | Always | In 1 condition |
| YARS1tyrosyl-tRNA synthetase 1 | Always | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Very often (80–99%) | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Very often (80–99%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Very often (80–99%) | In 1 condition |
| DHHdesert hedgehog signaling molecule | Very often (80–99%) | In 1 condition |
| ERLIN2ER lipid raft associated 2 | Very often (80–99%) | In 1 condition |
| FBLN5fibulin 5 | Very often (80–99%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Very often (80–99%) | In 2 conditions |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Very often (80–99%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Very often (80–99%) | In 2 conditions |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Very often (80–99%) | In 3 conditions |
| TNPO3transportin 3 | Very often (80–99%) | In 1 condition |
| VCPvalosin containing protein | Very often (80–99%) | In 4 conditions |
| VRK1VRK serine/threonine kinase 1 | Very often (80–99%) | In 1 condition |
| ABCA1ATP binding cassette subfamily A member 1 | Often (30–79%) | In 1 condition |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Often (30–79%) | In 1 condition |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Often (30–79%) | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Often (30–79%) | In 2 conditions |
| ATL1atlastin GTPase 1 | Often (30–79%) | In 1 condition |
| ATL3atlastin GTPase 3 | Often (30–79%) | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Often (30–79%) | In 1 condition |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Often (30–79%) | In 1 condition |
| ATXN1ataxin 1 | Often (30–79%) | In 1 condition |
| ATXN3ataxin 3 | Often (30–79%) | In 1 condition |
| BAG3BAG cochaperone 3 | Often (30–79%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Often (30–79%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | 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 2 conditions |
| COL6A2collagen type VI alpha 2 chain | Often (30–79%) | In 3 conditions |
| COL6A3collagen type VI alpha 3 chain | Often (30–79%) | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Often (30–79%) | In 1 condition |
| CPOXcoproporphyrinogen oxidase | Often (30–79%) | In 1 condition |
| ERLIN1ER lipid raft associated 1 | Often (30–79%) | In 1 condition |
| FUSFUS RNA binding protein | Often (30–79%) | In 2 conditions |
| GANgigaxonin | Often (30–79%) | In 2 conditions |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Often (30–79%) | In 2 conditions |
| HMGCS13-hydroxy-3-methylglutaryl-CoA synthase 1 | Often (30–79%) | In 1 condition |
| JAG1jagged canonical Notch ligand 1 | Often (30–79%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Often (30–79%) | In 1 condition |
| LAMP2lysosome associated membrane protein 2 | Often (30–79%) | In 1 condition |
| LIG3DNA ligase 3 | Often (30–79%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Often (30–79%) | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Often (30–79%) | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Often (30–79%) | In 2 conditions |
| MYH7myosin heavy chain 7 | Often (30–79%) | In 2 conditions |
| MYOTmyotilin | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 1 condition |
| RFC1replication factor C subunit 1 | Often (30–79%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Often (30–79%) | In 1 condition |
| SORDsorbitol dehydrogenase | Often (30–79%) | In 1 condition |
| SQSTM1sequestosome 1 | Often (30–79%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 1 condition |
| SYT2synaptotagmin 2 | Often (30–79%) | In 1 condition |
| TARDBPTAR DNA binding protein | Often (30–79%) | In 2 conditions |
| TBK1TANK binding kinase 1 | Often (30–79%) | In 1 condition |
| TOR1AIP1torsin 1A interacting protein 1 | Often (30–79%) | In 1 condition |
| TRMT2BtRNA methyltransferase 2B | Often (30–79%) | In 1 condition |
| UBQLN2ubiquilin 2 | Often (30–79%) | In 1 condition |
| VAPBVAMP associated protein B and C | Often (30–79%) | In 2 conditions |
| VPS13Avacuolar protein sorting 13 homolog A | Often (30–79%) | In 1 condition |
| DNMT1DNA methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| ELOVL5ELOVL fatty acid elongase 5 | Sometimes (5–29%) | In 2 conditions |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 2 conditions |
| GYG1glycogenin 1 | Sometimes (5–29%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Sometimes (5–29%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Sometimes (5–29%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| MYH2myosin heavy chain 2 | Sometimes (5–29%) | In 1 condition |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Sometimes (5–29%) | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Sometimes (5–29%) | In 1 condition |
| TRMT10AtRNA methyltransferase 10A | Sometimes (5–29%) | In 1 condition |
| TTNtitin | Sometimes (5–29%) | In 2 conditions |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| ZFTAzinc finger translocation associated | Sometimes (5–29%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Rarely (1–4%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Rarely (1–4%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Rarely (1–4%) | In 1 condition |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Rarely (1–4%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Rarely (1–4%) | In 1 condition |
| ACTN2actinin alpha 2 | Not recorded | In 2 conditions |
| ANGangiogenin | Not recorded | In 1 condition |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Not recorded | In 1 condition |
| ATP7AATPase copper transporting alpha | Not recorded | In 1 condition |
| BIN1bridging integrator 1 | Not recorded | In 1 condition |
| C19orf12chromosome 19 open reading frame 12 | Not recorded | In 1 condition |
| COA7cytochrome c oxidase assembly factor 7 | Not recorded | In 1 condition |
| DCAF8DDB1 and CUL4 associated factor 8 | Not recorded | In 1 condition |
| DCTN1dynactin subunit 1 | Not recorded | In 1 condition |
| DESdesmin | Not recorded | In 1 condition |
| DGUOKdeoxyguanosine kinase | Not recorded | In 1 condition |
| DYSFdysferlin | Not recorded | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Not recorded | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Not recorded | In 1 condition |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Not recorded | In 1 condition |
| HARS1histidyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| HK1hexokinase 1 | Not recorded | In 1 condition |
| HSPB8heat shock protein family B (small) member 8 | Not recorded | In 2 conditions |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Not recorded | In 1 condition |
| JPH1junctophilin 1 | Not recorded | In 1 condition |
| KIF1Bkinesin family member 1B | Not recorded | In 1 condition |
| LITAFlipopolysaccharide induced TNF factor | Not recorded | In 1 condition |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Not recorded | In 1 condition |
| MED25mediator complex subunit 25 | Not recorded | In 1 condition |
| MTMR2myotubularin related protein 2 | Not recorded | In 1 condition |
| MYBPC1myosin binding protein C1 | Not recorded | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Not recorded | In 1 condition |
| PABPN1poly(A) binding protein nuclear 1 | Not recorded | In 1 condition |
| PLIN4perilipin 4 | Not recorded | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Not recorded | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Not recorded | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Not recorded | In 1 condition |
| PRXperiaxin | Not recorded | In 2 conditions |
| RAB7ARAB7A, member RAS oncogene family | Not recorded | In 1 condition |
| SACSsacsin molecular chaperone | Not recorded | In 1 condition |
| SLC5A7solute carrier family 5 member 7 | Not recorded | In 1 condition |
| SOX10SRY-box transcription factor 10 | Not recorded | In 1 condition |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Not recorded | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Not recorded | In 1 condition |
| VPS13Dvacuolar protein sorting 13 homolog D | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | 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.
Narrower traits
Broader traits
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.
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks