Type 1 Polysaccharide Storage Myopathy is a glycogen storage disease that results in the accumulation of abnormal complex sugars in muscle cells, which can lead to muscle pain, weakness, and reluctance to move.
Five mutations in the androgen receptor gene, located on the X chromosome, are known to result in androgen insensitivity. Androgen insensitivity syndrome causes male horses to be sterile and appear phenotypically female.
Multiple congenital ocular anomalies (MCOA) is an inherited eye disorder that is associated with the silver dilution and is characterized by ocular cysts, enlargement of the cornea, abnormally formed iris/retina, and additional abnormalities.
Pre-implantation genetic diagnosis (PGD) is a procedure used to screen embryos recovered after uterine flush to determine sex and genetic traits through DNA testing prior to implantation in the uterus.
SynchroGait® is a diagnostic DNA test for a genetic variant (A) that has a major impact on the gait and coordination of horses. The discovery by researchers in Sweden showed that the mutation “facilitates lateral gaits, ambling and pace, and inhibits the transition from trot or pace to gallop”. The gait A variant has been identified as a major genetic factor for performance in trotting horses and ability to perform the additional “flying pace” in Icelandic horses.
Immune-mediated myositis (IMM) is an autoimmune muscle disease that can result in severe atrophy and extreme muscle loss. The genetic susceptibility to this condition is found in quarter horses and quarter horse-related breeds.