Træk
Spastic walk
Klinisk navn: Spastic gait
Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test75 gener knyttet til Spastic walk
Ændringer i disse gener forårsager sjældne tilstande, hvor Spastic walk 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 1 tilstand |
| ARG1arginase 1 | Altid | I 1 tilstand |
| CCT5chaperonin containing TCP1 subunit 5 | Altid | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Altid | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Altid | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altid | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Altid | I 1 tilstand |
| KIF5Akinesin family member 5A | Altid | I 1 tilstand |
| MAGmyelin associated glycoprotein | Altid | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Altid | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Altid | I 2 tilstande |
| REEP1receptor accessory protein 1 | Altid | I 2 tilstande |
| REEP2receptor accessory protein 2 | Altid | I 3 tilstande |
| RTN2reticulon 2 | Altid | I 3 tilstande |
| SACSsacsin molecular chaperone | Altid | I 1 tilstand |
| SPARTspartin | Altid | I 2 tilstande |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altid | I 2 tilstande |
| SPTSSAserine palmitoyltransferase small subunit A | Altid | I 1 tilstand |
| TECPR2tectonin beta-propeller repeat containing 2 | Altid | I 1 tilstand |
| TMEM63Ctransmembrane protein 63C | Altid | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Altid | I 1 tilstand |
| VCPvalosin containing protein | Altid | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Meget ofte (80–99 %) | I 4 tilstande |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Meget ofte (80–99 %) | I 3 tilstande |
| CPT1Ccarnitine palmitoyltransferase 1C | Meget ofte (80–99 %) | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| KIF1Akinesin family member 1A | Meget ofte (80–99 %) | I 2 tilstande |
| PLP1proteolipid protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC33A1solute carrier family 33 member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Meget ofte (80–99 %) | I 3 tilstande |
| ABCD1ATP binding cassette subfamily D member 1 | Ofte (30–79 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 2 tilstande |
| ARSIarylsulfatase family member I | Ofte (30–79 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ofte (30–79 %) | I 1 tilstand |
| ATL1atlastin GTPase 1 | Ofte (30–79 %) | I 2 tilstande |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Ofte (30–79 %) | I 2 tilstande |
Vis 35 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Ofte (30–79 %) | I 1 tilstand |
| DDHD1DDHD domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| DDHD2DDHD domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| DSTYKdual serine/threonine and tyrosine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Ofte (30–79 %) | I 2 tilstande |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ofte (30–79 %) | I 2 tilstande |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Ofte (30–79 %) | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Ofte (30–79 %) | I 2 tilstande |
| UBA5ubiquitin like modifier activating enzyme 5 | Ofte (30–79 %) | I 1 tilstand |
| UBAP1ubiquitin associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ofte (30–79 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| WDR48WD repeat domain 48 | Ofte (30–79 %) | I 1 tilstand |
| ZFRzinc finger RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Nogle gange (5–29 %) | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ikke registreret | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Ikke registreret | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Ikke registreret | I 1 tilstand |
| SPASTspastin | Ikke registreret | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ikke registreret | I 1 tilstand |
| WDR26WD repeat domain 26 | Ikke registreret | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | 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.
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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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger