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Hypomyelination or Shaking Puppy Syndrome (SPS) is caused by a deficiency of myelin.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 15 |
| Mutation | c.880delA |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
Información específica de la prueba
Hypomyelination or Shaking Puppy Syndrome (SPS) is caused by a deficiency of myelin. Myelin is a fat-rich compound that surrounds the axon of certain nerve cells and thus enables faster propagation of action potentials. Insufficient myelin (known as hypomyelination) disrupts this process, leading to neurological symptoms.
The variant of the disorder analysed in this test is found in the Weimaraner, and is caused by a recessive mutation to the gene FNIP2.
Características clínicas
La hipomielinización causa temblores en los cachorros durante sus primeras etapas de vida. Esto también se conoce como "cachorros temblorosos", ya que los cachorros afectados de 2 semanas de edad comienzan a experimentar temblores. Estos temblores ocurren hasta que los perros tienen entre 3 y 4 meses de edad. Luego desaparecen en la mayoría de los casos, aunque algunos perros conservan un temblor fino persistente en las patas traseras.
Información adicional
This disorder has also been observed in Chow Chows. While the exact genetic cause in this breed is still unclear, some studies suggest it may be the same mutation as the hypomyelination seen in Weimaraners. In one study, mating an affected Weimaraner with a Chow Chow exhibiting phenotypic signs of hypomyelination produced puppies that also displayed clinical symptoms of the disorder.
Referencias
Pubmed ID: 24272703
Year published: 2014
Omia ID: 526
Omia variant ID: 531