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Egenskap
Waddling gait
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Sammendrag
- Også kalt
- Waddling walk
- Kroppssystem
- Abnormality of the nervous system
Waddling gaitHP:0002515
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Få mitt Genome Test129 gener knyttet til Waddling gait
Endringer i disse genene forårsaker sjeldne tilstander der Waddling gait forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Alltid | I 1 tilstand |
| BGNbiglycan | Alltid | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Alltid | I 2 tilstander |
| CCN2cellular communication network factor 2 | Alltid | I 1 tilstand |
| COL10A1collagen type X alpha 1 chain | Alltid | I 2 tilstander |
| COL2A1collagen type II alpha 1 chain | Alltid | I 5 tilstander |
| DMDdystrophin | Alltid | I 2 tilstander |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Alltid | I 1 tilstand |
| DYMdymeclin | Alltid | I 2 tilstander |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Alltid | I 2 tilstander |
| FDX2ferredoxin 2 | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Alltid | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Alltid | I 1 tilstand |
| HSPB8heat shock protein family B (small) member 8 | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 3 tilstander |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MYH2myosin heavy chain 2 | Alltid | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Alltid | I 1 tilstand |
| PREPLprolyl endopeptidase like | Alltid | I 1 tilstand |
| TRIM63tripartite motif containing 63 | Alltid | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Alltid | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Alltid | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Svært ofte (80–99 %) | I 5 tilstander |
| CCN6cellular communication network factor 6 | Svært ofte (80–99 %) | I 2 tilstander |
| CHST3carbohydrate sulfotransferase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Svært ofte (80–99 %) | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Svært ofte (80–99 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| MATN3matrilin 3 | Svært ofte (80–99 %) | I 2 tilstander |
| TRIM32tripartite motif containing 32 | Svært ofte (80–99 %) | I 2 tilstander |
| VCPvalosin containing protein | Svært ofte (80–99 %) | I 1 tilstand |
| ANO5anoctamin 5 | Ofte (30–79 %) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ofte (30–79 %) | I 2 tilstander |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ofte (30–79 %) | I 1 tilstand |
| ARHGAP19Rho GTPase activating protein 19 | Ofte (30–79 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 2 tilstander |
Vis 89 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CFL2cofilin 2 | Ofte (30–79 %) | I 2 tilstander |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofte (30–79 %) | I 1 tilstand |
| COMPcartilage oligomeric matrix protein | Ofte (30–79 %) | I 4 tilstander |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Ofte (30–79 %) | I 1 tilstand |
| DSTYKdual serine/threonine and tyrosine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| EMDemerin | Ofte (30–79 %) | I 2 tilstander |
| FHL1four and a half LIM domains 1 | Ofte (30–79 %) | I 3 tilstander |
| FKRPfukutin related protein | Ofte (30–79 %) | I 2 tilstander |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ofte (30–79 %) | I 2 tilstander |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| MYPNmyopalladin | Ofte (30–79 %) | I 2 tilstander |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ofte (30–79 %) | I 2 tilstander |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 2 tilstander |
| SGCAsarcoglycan alpha | Ofte (30–79 %) | I 1 tilstand |
| SGCBsarcoglycan beta | Ofte (30–79 %) | I 1 tilstand |
| SGCGsarcoglycan gamma | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A17solute carrier family 6 member 17 | Ofte (30–79 %) | I 2 tilstander |
| SMN1survival of motor neuron 1, telomeric | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Ofte (30–79 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Ofte (30–79 %) | I 2 tilstander |
| TMEM43transmembrane protein 43 | Ofte (30–79 %) | I 1 tilstand |
| TNNC2troponin C2, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC10trafficking protein particle complex subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 2 tilstander |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ofte (30–79 %) | I 2 tilstander |
| TTNtitin | Ofte (30–79 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| ASAH1N-acylsphingosine amidohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL6A2collagen type VI alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL9A1collagen type IX alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL9A3collagen type IX alpha 3 chain | Noen ganger (5–29 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 2 tilstander |
| LAMA2laminin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 3 tilstander |
| NOGnoggin | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SLC34A1solute carrier family 34 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC34A3solute carrier family 34 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 3 tilstander |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TTI1TELO2 interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| MORC2MORC family CW-type zinc finger 2 | Sjelden (1–4%) | I 1 tilstand |
| ACANaggrecan | Ikke registrert | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CHKBcholine kinase beta | Ikke registrert | I 1 tilstand |
| DOK7docking protein 7 | Ikke registrert | I 1 tilstand |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Ikke registrert | I 1 tilstand |
| FLNCfilamin C | Ikke registrert | I 1 tilstand |
| FN1fibronectin 1 | Ikke registrert | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registrert | I 1 tilstand |
| MMP13matrix metallopeptidase 13 | Ikke registrert | I 2 tilstander |
| NEFHneurofilament heavy chain | Ikke registrert | I 1 tilstand |
| NEFLneurofilament light chain | Ikke registrert | I 1 tilstand |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Ikke registrert | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registrert | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Ikke registrert | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ikke registrert | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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