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Dog DNA testing illustration

Hypomyelination / Shaking Puppy Syndrome (SPS) – English Springer Spaniel

Code: H432

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

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

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.

Specifications

Breeds

English Springer Spaniel

Gene

PLP

Chromosome

X

Mutation

c.110A>C

Organ

Nervous System

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

X-Linked Recessive

Also known as

SHP

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.

References

Pubmed ID: 1723945

Year published: 1990

Omia ID: 770

Omia variant ID:

Turnaround information

  • 15 working days