Piirre
Spastic dysarthria
A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.
Yhteenveto
- Tunnetaan myös nimellä
- Rigid dysarthria
- Elimistön järjestelmä
- Abnormality of the musculoskeletal systemAbnormality of the nervous system
Share this page
Tämä sivu datana
Lisää sivun osoitteen perään .json tai pyydä application/json-muotoa, niin saat sivun JSON-muodossa.
library(jsonlite)
url <- "https://dantelabs.com/traits/spastic-dysarthria.json"
page <- fromJSON(url)
page$trait$nameLue Spastic dysarthria-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test27 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Hereditary Spastic ParaplegiaReads 10 of these genesMAGALDH18A1AP4B1AP4E1AP4M1AP4S1About this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
Show 23 more reports
- Inherited Neurodegenerative DisordersReads 18 of these genesMAGAFG3L2ALDH18A1ALS2AP4B1AP4E1About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesGLRX5About this report →
- Frontotemporal DementiaReads 1 of these genesMAPTAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesAFG3L2About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX6About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesPEX6TDP1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesGJB1PEX6PNPT1TDP1About this report →
- Parkinson DiseaseReads 1 of these genesMAPTAbout this report →
- Cutis LaxaReads 1 of these genesALDH18A1About this report →
- Other Inherited LeukodystrophiesReads 2 of these genesPEX6POLR3AAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesRAB3GAP2About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesVAMP1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesRAB3GAP2About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesALS2About this report →
- Osteogenesis ImperfectaReads 1 of these genesPOLR3AAbout this report →
- Primary Mitochondrial DiseaseReads 2 of these genesAFG3L2PNPT1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesAFG3L2About this report →
- DNA Repair DiseaseReads 1 of these genesTDP1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRAB3GAP2About this report →
- Leigh SyndromeReads 1 of these genesPNPT1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesGJB1About this report →
- Hearing Loss and DeafnessReads 1 of these genesPNPT1About this report →
Lue Spastic dysarthria-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test26 geeniä, jotka liittyvät piirteeseen Spastic dysarthria
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Spastic dysarthria esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| MAGmyelin associated glycoprotein | Aina | 1 sairaudessa |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Usein (30–79%) | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Usein (30–79%) | 2 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Usein (30–79%) | 3 sairaudessa |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Usein (30–79%) | 1 sairaudessa |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Usein (30–79%) | 1 sairaudessa |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Usein (30–79%) | 1 sairaudessa |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Usein (30–79%) | 1 sairaudessa |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Usein (30–79%) | 1 sairaudessa |
| ATXN8ataxin 8 | Usein (30–79%) | 1 sairaudessa |
| ATXN8OSATXN8 opposite strand lncRNA | Usein (30–79%) | 1 sairaudessa |
| ERLIN2ER lipid raft associated 2 | Usein (30–79%) | 1 sairaudessa |
| GBA2glucosylceramidase beta 2 | Usein (30–79%) | 2 sairaudessa |
| GJB1gap junction protein beta 1 | Usein (30–79%) | 1 sairaudessa |
| GLRX5glutaredoxin 5 | Usein (30–79%) | 1 sairaudessa |
| MAPTmicrotubule associated protein tau | Usein (30–79%) | 1 sairaudessa |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Usein (30–79%) | 1 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Usein (30–79%) | 1 sairaudessa |
| PRNPprion protein (Kanno blood group) | Usein (30–79%) | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Usein (30–79%) | 1 sairaudessa |
| SPARTspartin | Usein (30–79%) | 1 sairaudessa |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Usein (30–79%) | 1 sairaudessa |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Usein (30–79%) | 1 sairaudessa |
| VAMP1vesicle associated membrane protein 1 | Usein (30–79%) | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.19-9814e911.
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
Ilmainen toimitus · Tulokset 6–8 viikossa
