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• Familial Hypertrophic Cardiomyopathy (HCM)
HCM is an inherited disorder identifies in British Shorthairs, Maine Coons, Ragdolls, and Scottish Fold. It is a condition characterized by thickening of the heart muscle resulting in a reduced volume within the ventricles (major chambers of the heart), thus reducing the volume of blood that the heart can pump with each contraction. Affected animal is at risk of developing congestive heart failure and occasionally sudden death. The mutation does not behave like a simple dominant trait, but rather as a dominant trait within complete penetrance. Cats with one copy of the mutant gene are 1.8 times more likely to develop HCM than normal cats. Cats with two copies of the mutant are generally 18 times more likely to develop HCM than normal cats. About 9% of British Shorthair and 30% of Maine Coon are affected by HCM.
• Hyperoxaluria (HOU)
HOU is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys (kidney stone), leading to progressive kidney failure. In addition to the clinical signs due to kidney failure, the affected animals became very weak. Calcium oxalate crystals can also accumulate in skeletal muscle and spinal cord affecting mobility. It has been reported in a number of breeds, including domestic Short Hair and Ragdoll.
• Polycystic Kidney Disease (PKD)
PKD is the most common inherited cause of kidney failure in cats. PKD mutations have been found in many other cat breeds including Exotics, Himalayans, British Shorthairs, American Shorthairs, Ragdolls and Scottish Fold. The disease shows up later in life (late-onset). The cysts usually grow quite slowly in the kidney, so most affected cats will not show any signs of kidney disease until they are older. Problems occur when these cysts start to grow and progressively enlarge the kidney, reducing the kidney's ability to function properly. This usually occurs between 3 and 10 years of age (on average at 7 years of age). However, in some cats, kidney failure will occur at a much younger age and when it occurs, there is no way of predicting how rapidly the disease will progress in any particular cat. Ultimately PKD leads to kidney failure. It is estimated over 37% of Persians have PKD.
• Vitamin D-dependent rickets (VDDR)
VDDR is a genetic disorder of the bones normally caused by abnormal vitamin D and calcium levels in the body. It is characterized by an increased prevalence of fractures and deformity. Some cats may have a hunched appearance, swollen limbs, a reluctance to jump and a decreased appetite. Therapy with calcitriol, the active form of vitamin D, and calcium may help relieve the symptom.
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