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Hypomyelination or Shaking Puppy Syndrome (SPS) is caused by a deficiency of myelin.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 15 |
| Mutation | c.880delA |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
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.
Caractéristiques cliniques
Hypomyelination causes tremors in puppies during their early stages of life. This is also known as “shaking puppies” as affected puppies of 2 weeks old begin to experience tremors. These tremors occur until the dogs are 3 to 4 months old. Then they disappear in most cases, though some dogs retain a persistent fine tremor of the hind legs.
Additional Information
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.
Références
Pubmed ID: 24272703
Year published: 2014
Omia ID: 526
Omia variant ID: 531