CIDRA ~ Chinese Imperial Dog Registry of America is proud to announce tests that are available for all CIDCA registered Chinese Imperial Dogs (and puppies) to see if they are carriers of various different life-altering and/or life-threatening canine diseases. By doing these tests, we are helping Chinese Imperial Dogs breeders become more educated about choosing mating pairs and are, in turn, helping them create the healthiest best quality Chinese Imperial Dogs possible!

~ Neuronal Ceroid Lipofuscinosis ~

Neuronal Ceroid Lipofuscinosis (NCL) is a hereditary, progressive, disease in dogs and humans, which commonly leads to blindness and other neurologic problems and can lead to premature death. It is a lipid storage disease, meaning that affected individuals have an abnormal ability to store fat-associate pigments (lipopigments) in their bodies. Many biochemical defects have been implicated in these lipid storage diseases. NCL causes degeneration of the retina and usually affects the central nervous system (the brain) as well.

~ Globoid Cell Leukodystrophy ~

Globoid cell leukodystrophy or Krabbe disease is a severe, autosomal recessive dirsorder resulting from a deficiency of galactocerebrosidase (GALC) activity whereby the white matter is degenerated. Clinically, the symptoms appear between the 1st and 3rd months of age. Weakness of the limbs and tremors appear first, followed by muscular atrophy and neurological degeneration. The affected dogs may live until 8 or 9 months of age, when the symptoms become so severe that the dog is usually euthanized. Pathological studies of the white matter from affected dogs show characteristic globoid cells and loss of myelin.

~ Cystinuria ~

Cystinuria is an inherited disorder caused by a defective transport of the amino acid cystine in the kidney tubules. Normally, cystine is filtered in the kidney and reabsorbed within the tubules, resulting in little cystine in the urine. Dogs with Cystinuria do not properly reabsorb the cystine (and a few other amino acids) in the kidney tubules, causing the urine to contain abnormally high levels of cystine. Cystine is insoluble in neutral pH or acidic urine, so excess urinary cystine results in the formation of crystals, which in turn can lead to formation of cystine calculi (stones) in the kidney and/or the bladder. Dogs suffering from Cystinuria suffer repeated urinary tract inflammations, and are at risk for urinary blockage, which can, if not treated promptly, lead to kidney failure, bladder rupture, and death. The average age of onset of clinical signs attributable to Cystinuria is about 4.8 years, but in Newfoundlands, signs appear as early as 6 months to 1 year, suggesting that Newfoundlands suffer from a more severe form of the disorder than other breeds.

~ Phosphofructokinase Deficiency ~

Canine Phosphofructokinase (PFK) deficiency is an autosomal recessive genetic disease which prevents the metabolism of glucose into available energy resulting in exercise intolerance and muscle disease in Cocker Spaniels. PFK deficiency also destroys red blood cells in affected dogs, leading to anemia. The PFK deficiency gene frequency in Cockers is estimated to be 10% of the population. Because it is an autosomal recessive disorder, dogs that are "Carriers" of the disease show no signs of PFK deficiency, yet can pass the gene along and perpetuate the disease through breeding. Ultimately, the result is more affected animals. Although there is a significant frequency of this defect, there are no effective treatments for PFK deficiency. Therefore, breeders have been unable to combat the disease by using responsible breeding strategies to reduce the incidence of PFK deficiency in future generations of dogs.

~ Cone Degeneration ~

This condition is known by many names; day blindness, hemeralopia and cone degeneration - to name a few. These names all describe the same condition, a hereditary visual problem related to intense light. Within the retina are rod and cone cells. These cells are light sensitive (photo-receptor) and become stimulated by light. The stimulated cells send electrical impulses (via the optic nerve) which are translated by the brain into "sight". Each of the receptor cells serve specialized functions. The rod receptors function in limited (dark) light enabling the dog to have night vision. The cone cells function in intense (bright) light giving the dog its day sight.

~ Retinal Dystrophy ~

During inherited retinal dystrophy in Irish Setter dogs, decreased activity of cGMP phosphodiesterase (PDE) results in high cGMP levels and retinal degeneration (1-3). This defect could be in PDE itself, or in its interactions with other proteins of the rod outer segment. We report herein that when retinas from 8-week-old dogs were phosphorylated with gamma-32P-ATP, and separated on SDS-PAGE, phosphorylation of rd dog rhodopsin was reduced. When rd retinas were mixed with normal dog retinas, phosphorylation of the latter was inhibited. Since rd-mediated inhibition was prevented by 1 mM NaF, the results suggest that the cause of reduced rd phosphorylation is increased phosphatase activity. Together, these results demonstrate that decreased phosphorylation of rhodopsin due to increased phosphatase activity is a fundamental biochemical change which may partially account for the degenerative process and loss of visual acuity during inherited retinal dystrophy.

~ Severe Combined Immunodeficiency (SCID) ~

SCID is the most severe of the inherited immunodeficiency disorders. As the name implies, there is defective development of all components of the immune system. Pups are affected at a very young age, and are susceptible to a variety of infections. How is severe combined immunodeficiency inherited? This is an X-linked recessive trait. This means only males are clinically affected. However females can carry the trait and there is a 50% chance they will pass it to their male offspring.

~ Congenital Hypothyroidism / Goiter ~

Hypothyroidism is a problem which afflicts many breeds of dog, but far and away most canine hypothyroidism is adult-onset and is an immune-mediated disorder associated with production of anti-thyroglobulin antibodies. While this form clearly has an inherited component, it is not simply inherited, and there are unknown environmental factors involved. The Endocrinology Section of the Michigan State University Animal Health Diagnostic Laboratory continues to conduct research on this type of hypothyroidism, and the "thyroid panels" which report the levels of thyroid hormones, TSH, and autoantibodies are part of this effort. They are still collecting data which will eventually make the thyroid panel more predictive of hypothyroidism, the disease.

Congenital hypothyroidism is quite different. "Congenital" indicates that the hypothyroidism is present at or soon after birth rather than developing years later. Congenital hypothyroidism occurs in different forms in different breeds caused by various abnormalities of the hypothalmus, the pituitary gland, or the thyroid glans itself. In humans, untreated congenital hypothyroidism causes severe mental and physical retardation. It is of such concern in human medicine, that every infant born in this and every developed country of the world is tested for congenital hypothyroidism in publicly funded testing programs, and treatment is initiated immediately. With early diagnosis and immediate initiation of treatment these individuals lead near-normal lives.

~ Myotonia Congenita ~

Myotonia congenita is an inherited condition characterized by delayed relaxation of skeletal muscle after voluntary contraction without associated symptoms of weakness or muscular dystrophy. Recent molecular genetic studies have identified the CLCN1 gene encoding the skeletal muscle voltage-dependent chloride channel, ClC-1, as responsible for this condition in human, mouse, goat and dog forms of the disease. Congenital myotonia has been observed in certain dog breeds, and recently was described in Miniature Schnauzers. Myotonia in this dog breed exhibits many of the same features as human myotonia congenital including moderate to severe action myotonia, muscle hypertrophy, decreased myotonia severity with continued activity (`warm-up'), abnormal upper respiratory sounds especially when beginning to move, and low sarcolemmal chloride conductance.

~ GM1 Gangliosidosis ~

Ganglioside storage diseases are defects of lysosomal hydrolase enzymes that result in accumulation of gangliosides (glycosphingolipids that are major constituents of plasma membranes in a variety of cells, especially neurons) and glycolipid substrates of these hydrolases within lysosomes of most neurons throughout the nervous system, including brain, spinal cord, and autonomic ganglia. The disease has been described in a variety of species, including cats, dogs, cattle, sheep, mice, and humans. In dogs, the accumulation of ganglioside in the brain is due to deficiency of acid beta-galactosidase. In most of the gangliosidoses, total ganglioside content of the brain is high in clinically affected animals. Asialo (sialic acid free) derivatives of the gangliosides also accumulate in the brain and liver. High levels of other neutral glycosphingolipids may also be found. In some instances, different substrates are stored in neural and visceral tissues, probably reflecting the heterocatalytic activity of the deficient enzyme. In affected Portuguese Water dogs, clinical signs of GM1 are typically observed at around 4 to 5 months of age. In most cases, the disease is clinically manifested as a neurodegenerative disorder. Common signs of disease include vision problems, lethargy, difficulty walking, and death in a period of approximately 8 months to 1 year of age.

~ Hemophilia B ~

Hemophilia B (factor IX deficiency; Christmas disease) is a bleeding disorder of varying severity that is due to a deficiency in specific clotting factors. Normally the body responds to an injury that causes bleeding through a complex defence system. This consists of local changes in the damaged blood vessels, activation of blood cells called platelets, and the coagulation (clotting) process. Most inherited bleeding disorders are the result of abnormal platelet function or a deficiency in one or more of the factors involved in the blood clotting system. Hemophilia is the most common inherited coagulation factor deficiency. Hemophilia A is a result of a deficiency of factor VIII, and hemophilia B of factor IX. Hemophilia A is more common than hemophilia B, and varies in severity depending on the level of factor VIII activity. Hemophilia B is often a severe bleeding disorder.

~ Canine Leucocyte Adhesion Deficiency ~

Canine Leucocyte Adhesion Deficiency (CLAD) is a fatal immunodeficiency disease found in Irish Setters. The condition is caused by mutation in a gene encoding a leucocyte surface molecule, leading to a dysfunction of the granulocytes. Therefore, the cell-cell adhesion events are disturbed. Because their healing capacities are impaired, the affected dogs show severe infections of omphalophlebitis, skin infections, osteomyelitis and gingivitis. They die early in life from multiple severe infections, even if treated with massive doses of antibiotics.

~ Progressive Retinal Atrophy ~

The cells of the retina receive light stimuli from the external environment and transmit the information to the brain where it is interpreted to become vision. In progressive retinal atrophy (PRA), deterioration of the retinal cells causes blindness. The retina lines the back of the eye. The inner layer is the neural retina (called simply the retina) which has 9 layers, the outermost of which consists of the photoreceptor cells - the rods and cones. The outer layer of the retina is the retinal pigmented epithelium (RPE). In dogs the retina is not mature until 6 or 7 weeks of age. The term progressive retinal atrophy covers several types of inherited degeneration (deterioration) of the retina. Sub-classifications of PRA are based on the age at which dogs show signs of the disease and the type of retinal cell which is affected.

~ Narcolepsy ~

Narcolepsy is an uncommon disorder that results in abnormal sleep tendencies (e.g. sudden onset of sleep), sleep paralysis, and cataplexy. One of the manifestations of narcolepsy is cataplexy which is characterized by a rapid onset of sleep, resulting in flaccid paralysis that lasts for a few seconds to a few minutes. Narcolepsy is usually hereditary and occurs in several purebreds, such as Doberman pinchers, poodles, Labrador retrievers and dachshunds, as well as mixed breeds. Most cases develop before two years of age, with more than 75% occurring by six months of age.

~ Muscular Dystrophy ~

The most common form of muscular dystrophy in dogs and humans is caused by mutations in the dystrophin gene. The dystrophin gene is located on the X chromosome, and, therefore, disease-causing mutations in dystrophin occur most often in males. Therefore, females with dystrophin deficiency or other forms of muscular dystrophy may be undiagnosed or misdiagnosed. Immunohistochemistry was used to analyze dystrophin and a number of other muscle proteins associated with muscular dystrophy in humans, including sarcoglycans and laminin alpha2, in muscle biopsy specimens from 5 female dogs with pathologic changes consistent with muscular dystrophy. The female dogs were presented with a variety of clinical signs including generalized weakness, muscle wasting, tremors, exercise intolerance, gait abnormalities, and limb deformity. Serum creatine kinase activity was variably high. One dog had no detectable dystrophin in the muscle; another was mosaic, with some fibers normal and others partly dystrophin-deficient. A 3rd dog had normal dystrophin but no detectable laminin alpha2. Two dogs could not be classified. This study demonstrates the occurrence of dystrophin- and laminin alpha2-associated muscular dystrophy and the difficulty in clinical diagnosis of these disorders in female dogs.

~ Mucopolysaccharidosis type VII ~

Mucopolysaccharidosis is a lysosomal storage disease in which there is a buildup (storage) of mucopolysaccharides (glycosaminoglycans), due to the lack of the lysosomal enzyme acid hydrolase beta-glucuronidase.

~ Thrombopathia ~

Thrombopathia means a disorder of small blood cells called platelets or thrombocytes. Platelets play an important role at several stages of the body's response to any injury that causes bleeding. One function of platelets is to aggregate or "clump" at the site of blood vessel injury to form an initial plug. Platelets also facilitate blood clotting, in conjunction with the clotting factors, and release substances active in inflammation and tissue repair. Thrombasthenic ~ In thrombasthenic thrombopathia, there is a reduction or absence of certain platelet membrane proteins that are necessary for normal platelet function.

~ Neonatal Encephalopathy ~

Neonatal encephalopathy with seizures (NEWS) is a previously undescribed autosomal recessive disease of standard poodle puppies. Affected puppies are small and weak at birth. Many die in their first week of life. Those surviving past 1 week develop ataxia, a whole-body tremor, and, by 4 to 6 weeks of age, severe generalized clonic-tonic seizures. None have survived to 7 weeks of age. Cerebella from affected puppies were reduced in size and often contained dysplastic foci consisting of clusters of intermixed granule and Purkinje neurons. We used deoxyribonucleic acid samples from related standard poodles to map the NEWS locus to a 2.87-Mb segment of CFA36, which contains the canine ortholog of ATF2. This gene encodes activating transcription factor 2 (ATF-2), which participates in the cellular responses to a wide variety of stimuli. We amplified and sequenced all coding regions of canine ATF2 from a NEWS-affected puppy and identified a T > G transversion that predicts a methionine-to-arginine missense mutation at amino acid position 51. Methionine-51 lies within a hydrophobic docking site for mitogen-activated protein kinases that activate ATF-2 so the arginine substitution is likely to interfere with ATF-2 activation. All 20 NEWS-affected puppies in the standard poodle family were homozygous for the mutant G allele. The 58 clinically normal family members were either G/T heterozygotes or homozygous for the ancestral T allele. There are no previous reports of spontaneous ATF2 mutations in people or animals; however, atf2-knockout mice have cerebellar lesions that are similar to those in puppies with NEWS.

~ Glycogen Storage Disease Ia ~

Glycogen storage disease, also known as glycogenoses, is a rare inherited disorder with various types, all characterized by deficient or defective activity of the enzymes responsible for metabolizing glycogen in the body. This leads to accumulation of glycogen (a carbohydrate of glucose which aids short term energy storage in cells) in the tissues, and can result in the enlargement and dysfunction of various organs including the liver, heart, and kidneys.

There are four types of glycogenoses known in dogs, and certain species are susceptible to some of these. In dogs, Type Ia (more commonly known as von Gierke’s disease) occurs primarily in Maltese puppies; Type II (Pompe’s disease) occurs in Lapland dogs, usually beginning around six months of age; Type III (Cori’s disease) occurs in young female German Shepherds; and Type VII in English Spring Spaniels aged two to nine. The Type IV classification found in cats is seen in the Norwegian Forest breed. Signs may manifest at five to seven months of age, or in some cases, the disease may manifest in the womb, resulting in a still birth.

~ L-2-hydroxyglutaric aciduria ~

L-2-HGA affects the central nervous system, with clinical signs usually apparent between 6 months and one year (although they can appear later). Symptoms include epileptic seizures, "wobbly" gait, tremors, muscle stiffness as a result of exercise or excitement and altered behaviour.

The mutation, or change to the structure of the gene, probably occurred spontaneously in a single dog but once in the population has been inherited from generation to generation like any other gene. The disorder shows an autosomal recessive mode of inheritance: two copies of the defective gene (one inherited from each parent) have to be present for a dog to be affected by the disease. Individuals with one copy of the defective gene and one copy of the normal gene - called carriers - show no symptoms but can pass the defective gene onto their offspring. When two apparently healthy carriers are crossed, 25% (on average) of the offspring will be affected by the disease, 25% will be clear and the remaining 50% will themselves be carriers.

~ Multidrug Resistance in Cancer ~

Dogs with mutant MDR1 gene cannot remove some drugs out of the brain as normal dogs would, which may result in abnormal neurological signs.

~ Pyruvate Dehydrogenase Phosphatase 1 Deficiency ~

This disease is characterised by exercise intolerance and post-exercise collapse. There may also be neurological symptoms. Treatment of affected dogs with a high-fat, ketogenic, diet has been suggested

~ Pyruvate Kinase Deficiency ~

Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response. In dogs, the anemia is always severe (PCV 10-20%) whereas in cats the anemia shows a regenerative response. Also associated with the disease in dogs but not cats is a progressive myelofibrosis and osteosclerosis of unknown etiology and this feature, along with liver failure, is the major cause of death in affected dogs. The life expectancy of affected dogs is shortened and most die before 4 years of age. PK deficiency has been recognized in both dogs and cats. The dog breeds involved are the Basenji, Beagle, Dachshund, Eskimo, West Highland White Terriers and the Beagle. In cats, PK deficiency has been described in Abyssinian and Somali cats, as well as DSH cats. The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure. In all breeds the disease is inherited as an autosomal recessive condition. Heterozygotes (carriers) do not have any clinical signs of disease and lead normal lives. They are able to propagate mutations throughout the population however and it is therefore important that carrier animals be detected prior to breeding. PK deficiency can be detected, using molecular genetic testing techniques, in the Basenji, Beagle, Dachshund, Eskimo, West Highland White and Cairn Terriers and the Beagle. These tests identify both affected and carrier animals. It is also possible to identify animals deficient in PK activity through enzyme analysis in those breeds where a molecular genetic test is not available.

~ Canine Multifocal Retinopathy ~

Canine Multifocal Retinopathy (CMR) is a recently identified recessively inherited eye disease known so far to affect the Mastiffs (English, Bullmastiff, French Mastiff or Dogue de Bordeaux), Great Pyrenees and Coton de Tulear. Early clinical studies in 1998 by Dr. Bruce Grahn at the University of Saskatchewan, Canada, first described CMR in the Great Pyrenees. The condition observed in each of the named breeds at an ophthalmologist's exam includes numerous distinct (i.e. multi-focal), roughly circular patches of elevated retina with accumulation of material that produces gray-tan-pink colored lesions. These lesions, looking somewhat like blisters, vary in location and size, although typically they are present in both eyes of the affected dog.