Gangliosidose de type 1 (GM1)

Gangliosidosis is an inherited error of lipid metabolism, also known as a 'lysosomal storage disease'. An autosomal recessively inherited deficiency of acid β-galactosidase activity affects brain and multiple systemic organs.

GM1- gangliosidosis in Siberian Husky affects brain, causing progressive neurological impairment. Affected dogs suffer from paralysis of the extremities and spasticity of the muscles. At the age of about 8 months, most dogs die of this disease.

Portuguese Water Dogs affected with GM1- gangliosidosis develop nervous system manifestations including ataxia, seizures and changes in temperament. They rarely survive beyond 6 months of age.

Shiba Inu dogs affected with GM1- gangliosidosis develop nervous system manifestations including vision loss, walking difficulties, loss of balance, head tremors, lethargy and weight loss. First symptoms appear around 5 to 6 months of age, by 9 to 12 months of age affected dogs are lethargic, have cloudy corneas, and may have involuntary muscle contractions. Dogs usually die by 15 months of age.

 

Inheritance: autosomal recessive - read more

Mutation: GLB1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

Prix:

54,00 €

  • Vous pouvez commander un kit d'échantillonnage gratuit.
  • Un seul échantillon est nécessaire pour chaque animal, même si vous commandez plusieurs tests.
  • Nous conservons les échantillons pour vous permettre de commander des tests supplémentaires.
  • Nous proposons l'aide d'experts pour l'interprétation des résultats.
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