Several genetic diseases are of concern to Quarter Horse breeders. Most can now be identified by
DNA testing so that breeders do not inadvertently produce foals with these conditions: •
Hyperkalemic periodic paralysis (HYPP), which is caused by an
autosomal dominant gene originally linked to the stallion
Impressive. It is characterized by uncontrollable muscle twitching and substantial muscle weakness or paralysis. Because it is a dominant gene, only one parent has to have the gene for it to be transmitted to offspring. There is a DNA test for HYPP, which is required by the
AQHA. Since 2007, the AQHA has barred registration of horses that possess the homozygous form (H/H) of the gene, and though
heterozygous (H/N) horses are still eligible for registration, altering that status is periodically discussed. Additionally, all Quarter Horses born in 2007 or later that are confirmed to be descendants of Impressive must carry a note about the risks of HYPP on their registration papers. Due to HYPP, there have been some rule changes for show competition, including the creation of a "Performance Halter class" in which a horse must possess a Register of Merit in performance or racing before it can compete. •
Myosin-heavy chain myopathy (MYHM) is a genetic muscle disease added to the AQHA genetic testing panel in 2022. It is a
genetic dominant condition, though not all horses that inherit the gene will show clinical signs of being affected and the environmental triggers are not well understood at present. An estimated 7% of all Quarter Horses carry this gene. There are two forms, each linked to the same genetic variant. Affected horses may exhibit one or both forms of the condition. The first is Immune-Mediated Myositis (IMM). It may occur in response to a vaccination or infection, following which the immune system misinterprets the muscle cells as foreign and rapidly attacks them. Horses initially experience stiffness, weakness, and a decreased appetite followed by the rapid loss of 40% of muscle mass within 72 hours. The second form of MYHM is Nonexertional Rhabdomyolysis (compare to PSSM, below), which often presents as stiffness and possible swelling of muscles along the back and haunches without exercise. Clinical signs include pain, muscle cramping, and muscle damage, which may or may not result in muscle loss. When the condition is triggered, horses can recover but may have more frequent episodes. Horses that are homozygous (My/My) may have more severe symptoms. •
Malignant hyperthermia (MH) causes a horse's body to release uncontrolled amounts of calcium into the bloodstream when subjected to certain stressors, resulting in painful muscle cramps, extremely high temperature up to 113 degrees Fahrenheit, irregular heart rhythm, excessive sweating, and shallow breathing. It manifests when horses receive certain anesthesia drugs or in response to stressors such as overwork or excitement. Caused by a mutated
allele, ryanodine receptor 1 gene (RyR1) at nucleotide C7360G, generating a R2454G amino acid substitution, it is inherited as an
autosomal dominant. Horses that carry PSSM or MYHM along with MH have more severe episodes. Approximately 3.5% of all Quarter Horses are carriers, as are as many as 28% of horses in
cutting and related
working cow horse disciplines. •
Glycogen Branching Enzyme Deficiency (GBED) is a recessive genetic disease in which the horse lacks an enzyme necessary for storing
glycogen. In affected horses the heart and skeletal muscles cannot function, leading to rapid death. The disease manifests in foals who are
homozygous for the lethal GBED allele, meaning both parents carry one copy of the gene. The stallion
King P-234 has been linked to this disease. A
DNA blood test is available. Roughly 10% of all Quarter Horses carry this gene. •
Equine polysaccharide storage myopathy, also called EPSM or PSSM, is a metabolic muscular condition in horses that causes
tying up, and is also related to a
glycogen storage disorder. There are two forms, PSSM-1 and PSSM-2. PSSM-1 is found in Quarter Horses and has a genetic test available. PSSM-2, which is primarily found in other breeds, has no genetic test available but can be diagnosed with a muscle biopsy. PSSM-1 has been traced to three specific but undisclosed bloodlines in Quarter Horses, with an
autosomal recessive inheritance pattern. 11% of the Quarter Horse population carries PSSM, and 48% of Quarter Horses with symptoms of neuromuscular disease have PSSM. To some extent the disease can be diet controlled with specialized low-starch diets, but
genetic testing is advised before breeding as the condition exists at a subclinical level in approximately 6% of the general Quarter Horse population. •
Lethal White Syndrome (LWS) is fatal when homozygous. Affected foals are born pure white in color with an underdeveloped intestinal tract that prevents them from defecating, thus dying within days if not euthanized first. Although "
cropout" Quarter Horses with
pinto markings were not allowed to be registered for many years because white markings were thought to be a result of undesirable crossbreeding, •
Cleft Palate: a birth defect linked to multiple causative factors including genetics, hormones, mineral deficiency, tranquilizers, and steroids. Cleft palates are extremely uncommon, but as most of the research done on the condition has utilized Quarter Horses, the defect is linked to the breed. The surgery to repair a cleft palate has about a 20% success rate. Clinical signs include: lifting head high when eating, dropping head low to drink, coughing when beginning of exercise, and taking an extremely long time to fully administer oral medications placed in the side of the jaw. ==See also==