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H432

Shaking Puppy Syndrome (SPS) is a form of hypomyelination, a severe neurological disorder, found in the English Springer Spaniel.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Shaking Puppy Syndrome (SPS) is a form of hypomyelination, a severe neurological disorder, found in the English Springer Spaniel. The disease causes involuntary tremors and results in early death. It is caused by an X-linked recessive mutation to the gene PLP1

Clinical features

Symptoms are already observed with 2 weeks of age. Affected puppies suffering from SPS have difficulties with standing, moving and eating. The disease progresses with age and will lead to seizures. Affected dogs are also smaller in size compared to unaffected dogs. The life expectancy of affected dogs will not exceed 3-4 months after diagnosis.

Additional information

References

Pubmed ID: 1723945

Omia ID: 770

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