Genetic diseases are the result of mutations, affecting the function of one or more proteins. DNA screenings tests are available for these diseases. The genetic diseases of concern are listed below. All of these are autosomal recessive, meaning the pup must inherit two copies of the defective gene to be affected. As long as the pup has one normal copy, the pup will be normal. (Remember Mendel and his peas?)
vWD1: Von Willebrand disease is a form of hemophilia or blood clotting disorder first characterized in humans in 1920. The disease in Cotons is a result of a mutation affecting Factor VII clotting protein. Different breeds of dogs actually have different clotting factors involved. Symptoms include frequent nose bleeds, blood in the urine and excessive bleeding. Can be managed with regular (and expensive) blood transfusions.
Bandera or BNAT: Neonatal Ataxia is the result of a defective neurotransmitter receptor. The cerebellum, which is the part of the brain that controls skeletal muscle, cannot function. Symptoms are a puppy fails to develop the ability to walk between 3-4 weeks of age. Typically fatal before before 2-3 months of age. Beware of anyone trying to sell a puppy less than 8 weeks.
Degenerative myelopathy: DM is a progress degeneration of the spinal cord, and similar to ALS in humans. Also know as the dogs on wheels syndrome. Onset symptom is a loss of coordination of the back limbs, gradually worsening, ultimately fatal.
Canine multifocal retinopathy: CMR is the result in a mutation in one of the genes involved in correct retina formation. Lesions on the retina or retina detachment may occur.
Primary hyperoxaluria: PH results from a genetic mutation of an enzyme which allows the liver and kidneys to process and release oxalate. Symptoms begin at 3-4 weeks, as the kidneys degenerate.
Hyperurioccosuria: HU results from a genetic mutation of an enzyme which process uric acid. Symptoms are frequent urination, urinary tract infections and formation of kidney & bladder stones.