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Kachó Malesa di Almasenamentu di Glikógeno Vii Den Kachó di Kodorniz Aleman (GSDVII-DW)


Glycogen Storage Disease VII (GSDVII) is a genetic condition that affects the Deutscher Wachtelhund, leading to muscle weakness and exercise intolerance. A DNA test for GSDVII is crucial for responsible breeding, helping to identify carriers and prevent the disease from being passed on to future generations. By testing your Deutscher Wachtelhund, you can ensure a healthier lineage and contribute to the overall well-being of the breed. Early detection through a simple saliva or blood test enables proactive management of the condition. Understanding GSDVII is essential for breeders and dog owners alike. Protect your pet's health by choosing DNA testing today. Invest in your dog's future and promote genetic health within the Deutscher Wachtelhund community.

Abreviashon : GSDVII-DW
Mutashon analisá : PFKM c.550C>T
Herensha : Autosomal Resesivo

Sigla

GSDVII-DW

Frekuensha opservá

Poko komun

Severidat klíniko

Grave

Klasifikashon klíniko

Malesanan Metabóliko

Mutashon analisá

PFKM c.550C>T
p.(R184W)

Modo di herensia

Autosomal Resesivo (Kompletu)

Resumen di prueba:

Glycogen Storage Disease VII (GSDVII) is a hereditary condition affecting the Deutscher Wachtelhund, a breed known for its hunting prowess. This genetic disorder impairs the dog's ability to metabolize glycogen, leading to muscle weakness and exercise intolerance. A DNA test can identify carriers and affected individuals, helping breeders make informed decisions to minimize the disease's prevalence. Early diagnosis through genetic testing can significantly improve the quality of life for affected dogs. Responsible breeding practices are essential to ensure the health and well-being of future generations of this beloved breed.

Obtenibel for di e pakete : Basic

E tèst di DNA aki ta inkluí kuminsando for di nos pakete Basic — i tambe ta parti di e paketenan Basic, Standard, Advanced, Complete.

Wak e paketenan di tèst di DNA →
Skohe e pakete ku ta pas mihó ku bo strategia di krio òf salú di bo bestianan.

Understanding DNA Testing for Glycogen Storage Disease VII in Deutscher Wachtelhund

Glycogen Storage Disease Type VII (GSDVII), also known as Tarui's disease, is a rare inherited metabolic disorder that affects the muscle cells of dogs, including the Deutscher Wachtelhund. This condition results from a deficiency in the enzyme phosphofructokinase (PFK), which plays a crucial role in the glycolytic pathway responsible for energy production during muscle activity.

Pathophysiology of GSDVII in Deutscher Wachtelhund

In affected dogs, the lack of functional PFK enzyme impairs the breakdown of glucose within muscle cells, leading to an abnormal accumulation of glycogen and other metabolic byproducts. This disruption causes muscle weakness, exercise intolerance, and potential muscle damage, especially during periods of exertion. The energy deficiency within muscle tissues can lead to episodes of weakness or collapse following physical activity.

Genetic Basis of GSDVII

GSDVII in Deutscher Wachtelhund is inherited in an autosomal recessive manner, meaning that an affected dog must inherit two copies of the mutated gene—one from each parent—to develop the disease. Carriers, with only one copy of the mutation, typically do not display clinical signs but can pass the mutation to their offspring. Identifying carriers and affected individuals is essential for responsible breeding and disease management.

Importance of DNA Testing for GSDVII

DNA testing provides a definitive method for determining the presence or absence of the genetic mutation associated with GSDVII. This testing allows breeders and veterinarians to make informed decisions to reduce the incidence of affected puppies. Early diagnosis through genetic screening can also help manage the condition by adjusting exercise routines and providing supportive care to affected dogs, improving their quality of life.


Rasa rekonosé pa e tèst: Malesa di Almasenamentu di Glikógeno Vii Den Kachó di Kodorniz Aleman (GSDVII-DW)

  • Deutscher Wachtelhund

🧬 Interpretation of genotypes GSDVII-DW

Genotipo
Estado
🟡 N/N
No-transportador - Sin Riesgo
🟡 N/GSDVII-DW
Transportadó - Sin Riesgo
❌ GSDVII-DW/GSDVII-DW
Afektá - Na Riesgo

FAQ: komprondementu di e interpretashon

Kiko “Kla” ta nifiká?

E animal no ta karga e mutashon. E no lo desaroyá e malesa i lo no pasa esaki.

Un “Transportadó” ta serio?

No. E animal ta generalmente salú pero por transmití e mutashon na su yu.

Kiko si un bestia ta “Afektá”?

E ta karga dos kopia mutá. Ta spera señalnan klíniko dependiendo di e malesa. E no mester wòrdu kriá.

Dikon tin diferensia entre hòmber/muhé?

Algun malesa ta mará na sekso, pues nan ekspreshon ta varia dependiendo di e sekso di bestia.



Pronostiká Desendiente

N/N (no-transportador) )
N/GSDVII-DW (Transportador) )
GSDVII-DW/GSDVII-DW (Afektá) )

FAQ di Prueba di DNA

Kiko e tèst di DNA aki ta detektá?

This DNA test detects the mutation associated with Glycogen Storage Disease VII In Deutscher Wachtelhund (GSDVII) in order to identify clear, carrier, or at-risk animals.

Dikon tèst un bestia di krio?

Prueba di DNA ta yuda kriadónan plania parehamentu mas sigur i redusí e riesgo di transmití e mutashon na yunan.

Kiko ta e moda di herensia di e tèst aki?

E moda di herensia raportá pa e tèst aki ta Outosomal Resesivo.

Kua mutashon ta wòrdu analisá den e tèst aki?

This test analyses the mutation PFKM c.550C>T.

Un bestia kargadó ta nesesariamente afektá?

No nesesariamente. Interpretashon ta dependé di e patronchi di herensia i e genotipo resultante.


Referensianan

Inal Gultekin G, Raj K, Lehman S, Hillström A, Giger U. Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog. Mol Cell Probes. 2012 Dec;26(6):243-7. doi: 10.1016/j.mcp.2012.02.004. Epub 2012 Mar 16.

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Hasi akseso na un base di dato amplio i ekspertamente kura di markadónan genétiko, inkluyendo señalnan klíniko, enfokenan di diagnostiko, opshonnan terapéutiko, detayenan di mutashon, referensianan sientífiko, rasanan rekonosé i karakterístikanan di mutashon.

Hermentnan Genétiko Avansá pa Desishonnan di Kriamentu Mas Inteligente

Tuma desishonnan informá ku hermentnan genétiko poderoso diseñá pa evaluá riesgo di malesa, pronostiká herensia di koló di kabei, kalkulá koefisientenan di konsanguinidat, verifiká paternidat i modelá resultadonan di yu.

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Glycogen Storage Disease VII In Deutscher Wachtelhund (GSDVII)
Glycogen Storage Disease VII In Deutscher Wachtelhund (GSDVII) - MyLabDNA
Discover Glycogen Storage Disease VII (GSDVII) in Deutscher Wachtelhund. Learn about DNA testing, symptoms, and prevention for your dog.
Glycogen Storage Disease VII In Deutscher Wachtelhund (GSDVII)
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Glycogen Storage Disease VII In Deutscher Wachtelhund (GSDVII) - MyLabDNA
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Discover Glycogen Storage Disease VII (GSDVII) in Deutscher Wachtelhund. Learn about DNA testing, symptoms, and prevention for your dog.
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