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Polymyositis is an inflammatory muscle disease that can cause difficulties with movement, swallowing, and general muscle function.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Mutation | g.17592612-17632048del |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Risk Factor |
| Also known as | PM |
General information
Polymyositis is an inflammatory muscle disease that can cause difficulties with movement, swallowing, and general muscle function. In the Dutch Kooikerhondje, two genetic variants, PM1 and PM2, have been associated with an increased risk of developing the disease.
Current research indicates that only dogs carrying at least one copy of the PM1 variant are at risk of developing polymyositis. Dogs heterozygous for PM1 have an estimated disease risk of approximately 2%, while homozygous PM1 dogs have an estimated risk of approximately 10%.
If a dog carrying the PM1 variant is also heterozygous or homozygous for the PM2 variant, the risk increases further. In these cases, the estimated risk rises to approximately 6% for heterozygous PM1 dogs and up to 30% for homozygous PM1 dogs.
The reported risk estimates are based on the current state of scientific research and may change as additional data and studies become available.
Clinical features
The average age at which symptoms first appear is 3 years for dogs that are homozygous for the PM1 mutation and approximately 4.5 years for dogs that are heterozygous for the PM1 mutation.
The most noticeable symptoms are muscle pain, abnormal gait, general muscle weakness, and muscle stiffness. Swallowing difficulties may also occur. In addition, as the disease progresses, symptoms such as lethargy, weight loss, reduced endurance, and breathing problems may develop due to aspiration and the subsequent development of pneumonia.
Additional information
This DNA test is performed in collaboration with the Expert Centre for Veterinary Genetics of Utrecht University. It is important to test for PM2 if your dog is heterozygous or homozygous for the PM1 mutation in order to determine the additional risk of developing the disease. It is also important to test for PM2 in dogs without the PM1 mutation if there are plans to breed the dog with a PM1 heterozygous dog. Breeding with PM1 homozygous dogs is discouraged.
WW = Your Kooikerhondje is free of the risk factor for polymyositis (PM1). The dog does not carry the DNA variant involved in the development of polymyositis in the Kooikerhondje. This means that the risk of the disease is extremely low. WM = Your Kooikerhondje is heterozygous for the risk factor for polymyositis. The dog has one copy of PM1, the DNA variant involved in the development of polymyositis in the Kooikerhondje. This means that the risk of the disease is limited to approximately 2%. It is recommended to also test the dog for PM2, the other risk factor for polymyositis in the Kooikerhondje. MM = Your Kooikerhondje is homozygous for the risk factor for polymyositis. The dog is homozygous for the risk factor and has two copies of the DNA variant involved in the development of the disease. Therefore, the dog has an increased risk of developing polymyositis. The risk is estimated to be at least 10%. This risk increases further if the second risk factor (PM2) is also present in your dog. It is recommended to test for this risk factor.
References
Pubmed ID: 39746095
Year published: 2025
Omia ID: 1874
Omia variant ID: