Polysaccharide storage myopathy 1 (PSSM1)
Summary
PSSM1 is relevant to all breeds with Quarter Horse bloodlines, as well as Gypsy Cobs, heavy horses and Haflingers.
PSSM is a muscle disease that can cause "tying up" symptoms: muscle weakness, shivers, work intolerance, and even muscle wasting.
Unlike most other inherited disorders that we test for, PSSM1 is not recessive. This means that horses which inherit the PSSM1 mutation from just one parent can show signs of this disorder. To complicate matters, not all horses with the PSSM1 mutation show signs of this disease - its effects range all the way from undetectable to fatal.
Gene or region and technical reference
Gene: GYS1 (causative). Reference: McCue et al. (2008)
Reported alleles
n. Test developed using manufactured DNA, animal controls.
PS1. Test developed using manufactured DNA, animal cases.
Panels: groups of tests that are often ordered together
This test is in the Gypsy health & colour panel.
This test is in the QH health panel.
This test is in the QH health & colour panel.
