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Polymyositis 1 (PM1) is a muscle disease in which inflammation of the muscles leads to difficulties with movement and swallowing.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | |
| Also known as | |
| Year Published |
Informations générales
Polymyositis 1 (PM1) is a muscle disease in which inflammation of the muscles leads to difficulties with movement and swallowing. This variant occurs in the Dutch Kooikerhondje and is a complex genetic disorder involving multiple gene mutations. Dogs that are homozygous for this mutation have a minimum of 10% chance for developing the condition, while heterozygous animals have approximately a 1% chance.
Caractéristiques cliniques
The disease can start at a young age, but the symptoms and severity vary greatly between dogs. Kooiker dogs homozygous for the risk factor exhibited an earlier age of onset. Additionally, neutered Kooiker dogs with one or two copies of the risk factor showed a higher age of onset compared to intact Kooiker dogs with one or two copies of the risk factor. The most noticeable symptoms include an abnormal gait, general muscle weakness, and muscle stiffness. Swallowing difficulties may also occur. Additionally symtoms, such as lethargy, weight loss, reduced endurance, and respiratory issues can be present.
Additional Information
This DNA test is conducted in cooperation with the Expertise Centre Genetics of Companion Animals of Utrecht University.
Explanation of results:
WW = Your Kooikerhondje is clear of the risk factor for polymyositis. The dog is clear of the DNA variant that is involved in the development of polymyositis in the Kooikerhondje. This means that the risk of the disease is extremely low.
WM = Your Kooikerhondje is a heterozygote for the risk factor for polymyositis. The dog is a heterozygous carrier and has one copy of the DNA variant that is involved in the development of polymyositis in the Kooikerhondje. This means that the risk of the disease is limited at approximately 1%.
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 that is involved in the development of the disease. Therefore, the dog has an increased risk to get polymyositis. The risk is estimated to be at least 10%. We advise to have the CK (= CPK) level of the blood of your dog measured at routine visits to your veterinarian, regardless of being homozygous or heterozygous for the risk factor. An increased level is indicative of polymyositis. Clinical signs that may be noticed are difficulty swallowing and difficulty walking with a stiff stride.
Références
Pubmed ID: 39746095
Omia ID: 1874