Hypomyelination / Shaking Puppy Syndrome (SPS) – English Springer Spaniel
Kodas: H432
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 | |
|---|---|
| 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
- 10 working days