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La polimiosite 1 (PM1) è una malattia muscolare in cui l'infiammazione dei muscoli porta a difficoltà di movimento e deglutizione.
Working days 15
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Also known as | |
| Year Published |
Informazioni generali
La polimiosite 1 (PM1) è una malattia muscolare in cui l’infiammazione dei muscoli porta a difficoltà di movimento e deglutizione. Questa variante si verifica nell’olandese Kooikerhondje ed è una malattia genetica complessa che coinvolge molteplici mutazioni genetiche. I cani omozigoti per questa mutazione hanno una probabilità minima del 10% di sviluppare la condizione, mentre gli animali eterozigoti hanno circa l’1% di possibilità.
Caratteristiche cliniche
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.
Informazioni aggiuntive
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.
Riferimenti
Pubmed ID: 39746095
Omia ID: 1874