Træk
Balance impairment
Klinisk navn: Postural instability
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Resumé
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
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Bestil min Genome Test110 gener knyttet til Balance impairment
Ændringer i disse gener forårsager sjældne tilstande, hvor Balance impairment ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 2 tilstande |
| ABCC9ATP binding cassette subfamily C member 9 | Altid | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Altid | I 3 tilstande |
| COQ4coenzyme Q4 | Altid | I 2 tilstande |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Altid | I 3 tilstande |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altid | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altid | I 1 tilstand |
| FBXO7F-box protein 7 | Altid | I 2 tilstande |
| LAMB1laminin subunit beta 1 | Altid | I 1 tilstand |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Altid | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Altid | I 6 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Altid | I 1 tilstand |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Altid | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Meget ofte (80–99 %) | I 2 tilstande |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Meget ofte (80–99 %) | I 1 tilstand |
| PODXLpodocalyxin like | Meget ofte (80–99 %) | I 2 tilstande |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Meget ofte (80–99 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Meget ofte (80–99 %) | I 3 tilstande |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 2 tilstande |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Ofte (30–79 %) | I 1 tilstand |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Ofte (30–79 %) | I 3 tilstande |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ofte (30–79 %) | I 4 tilstande |
| DDHD1DDHD domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstande |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ofte (30–79 %) | I 1 tilstand |
| KCND3potassium voltage-gated channel subfamily D member 3 | Ofte (30–79 %) | I 1 tilstand |
Vis 70 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| LRRK2leucine rich repeat kinase 2 | Ofte (30–79 %) | I 3 tilstande |
| MAB21L1mab-21 like 1 | Ofte (30–79 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Ofte (30–79 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 2 tilstande |
| PMP22peripheral myelin protein 22 | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Ofte (30–79 %) | I 2 tilstande |
| PRRT2proline rich transmembrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 1 tilstand |
| SLC30A10solute carrier family 30 member 10 | Ofte (30–79 %) | I 2 tilstande |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 4 tilstande |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ofte (30–79 %) | I 2 tilstande |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofte (30–79 %) | I 2 tilstande |
| ABCC6ATP binding cassette subfamily C member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CXCR4C-X-C motif chemokine receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GIGYF2GRB10 interacting GYF protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Nogle gange (5–29 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Nogle gange (5–29 %) | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Nogle gange (5–29 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PRPH2peripherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Nogle gange (5–29 %) | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Nogle gange (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nogle gange (5–29 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS35VPS35 retromer complex component | Nogle gange (5–29 %) | I 2 tilstande |
| ADAT3adenosine deaminase tRNA specific 3 | Sjældent (1–4%) | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registreret | I 2 tilstande |
| ATXN3ataxin 3 | Ikke registreret | I 2 tilstande |
| CSF1Rcolony stimulating factor 1 receptor | Ikke registreret | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ikke registreret | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registreret | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ikke registreret | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ikke registreret | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ikke registreret | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Ikke registreret | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registreret | I 1 tilstand |
| RFC1replication factor C subunit 1 | Ikke registreret | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ikke registreret | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registreret | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registreret | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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