→ Disorder of the sugar metabolism of the muscles causing muscle damage.
- Reluctance to move
- Atactic gait/coordination problems
- Muscle tremors
- Frequent tying up/tension
- Excessive sweating
- Gait changes (cross firing or disunited canter/bunny hopping/rope walking)
- Degenerative muscle disease that manifests itself in a disorder of the sugar metabolism of the muscles.
- Symptoms usually occur during/shortly after physical exercise.
- Excessive activity of the enzyme glycogen synthetase 1 → Abnormal accumulation of glycogen granules in muscle cells.
Inheritance: incomplete autosomal dominant/semidominant
→ Horses with one or two copies of the variant (n/P1 or P1/P1) are affected. Incomplete or semidominant means that animals with one copy (n/P1) may show milder symptoms and a later age of onset than animals with two copies (P1/P1).
|Genotype:||The horse is:||Effects:|
|n/n||normal.||The horse does not have any copy of P1 and therefore cannot pass it on to any offspring.|
|n/P1||affected (heterozygous).||The horse has one copy of P1 and will pass it on to approximately 50% of its offspring. These 50% are at risk of developing PSSM1.|
|P1/P1||affected (homozygous).||The horse has two copies of P1 and will pass it on to 100% of its offspring. All offspring will be at risk of developing PSSM1.
- Affected horses (n/P1 or P1/P1) should only be bred after careful consideration and with the advice of a genetic expert and veterinarian. Please contact us for consultation and support.
Test information: This test identifies a mutation in the GYS1 gene.
This test is performed by partner laboratory.
Further information is available at Online Mendelian Inheritance in Animals.
Test #: H128
Samples: Blood, Hair
Price: 39 € (net)
Time required: 10-14 days