Cha bhi fios aire math an tobair gus an tràigh e.
“The value of the well is not known until it goes dry.”
Some diseases CTS breeders tested their Connemara (shorty) Jack Russells for and their Definitions:
PLLPrimary Lens Luxation is an eye problem well known in many Terrier breeds. The lens is held in place in the eye by fibers known as zonules. If these zonules stretch or break, the lens can fall out of place, or luxate. When this happens it often requires immediate veterinary attention to remove the displaced lens and prevent painful secondary glaucoma, and sometimes loss of vision. CTS breeders do not breed carriers of the PLL gene.
BAERThis is a test for deafness. Deafness is a concern due to the fact that the Shorty Jack Russell Terrier and the CJRT are Piebald breeds and can be affected with a diluted coat color gene. Deafness is often found in all strains of Jack Russell Terrier lines - Shorties included - because they are a Piebald breed.
LUXATING PATELLALuxating means dislocating. Patella is your dog's "knee", the joint on the front of her hind leg. So a luxating patella is a dislocating knee or trick knee, a knee that keeps slipping out of its socket. This is common in small breeds with weak ligaments, tendons, and/or muscles. It can also happen in pups whose kneecap groove is too narrow or shallow. The knee usually slips inwardly, toward the body, and locks so that your puppy can't bend her leg. Luxating Patellas are very common in the Jack Russell Terrier.
Myotonia CongenitaMyotonia Congenita is a disease inherited as an autosomal recessive mutation in the canine chloride channel skeletal muscle gene. The gene codes for specific proteins in muscles. When a mutation occurs in the gene, the nature of the amino acid building blocks of specific proteins is modified. Thus, these changes affect the ability of muscles to quickly relax after a voluntary contraction. The delay in skeletal muscle relaxation is not accompanied by cramping or pain to the animal. Affected dogs often have a rigid gate, probably due to excessive growth of the muscles. However, after exercise, the gate improves. The animals may also have an abnormal bark, and superfluous salivation with difficulty in swallowing, There is no known cure for the disorder.
Progressive Retinal AtrophyProgressive retinal atrophy, or PRA as it is frequently termed, is a hereditary form of macular degeneration that results in progressive and irremediable loss of visual. In its simplest from, PRA is a disease of the retina. This tissue, located inside the back of the eye, contains specialized cells called photoreceptors that absorb the light focused on them by the eye’s lens, and converts that light, through a series of chemical reactions into electrical nerve signals. The nerve signals from the retina are passed by the optic nerve to the brain where they are perceived as vision. The retinal photoreceptors are specialized into rods, for vision in dim light (night vision), and cones for vision in bright light (day and color vision). PRA usually affects the rods initially, and then the cones in later stages of the disease. In human families, the diseases equivalent to PRA (in dogs) are termed retinitis pigmentosa.
Three Different types of PRA are found in different breeds of dogs.
PRA is often found in the Jack Russell Terrier. The Shorty, Parsons, English and the Irish. Short legged or long, all Jack Russell lines have a high incident of PRA.
Generalized PRA - early onset
Generalized PRA (progressive rod-cone degeneration) - later onset (usually older than 1 year)
Central PRA - retinal pigment epithelial dystrophy (RPED)
Canine Leukocyte Adhesion Deficiency
Canine Leukocyte Adhesion Deficiency (CLAD) is rare but fatal disease inherited as an autosomal recessive trait. CLAD is an abnormality of the immune system where the white blood cells are unable to fight infection. Animals that are affected display early and serious infections and usually die early in life. This disease was first identified in 1975 in Irish Setters. Several animals displaying various forms of recurrent infectious and immunological complications were found to have an aberrant expression of the CD18 molecule.
Congenital Hypothyroidism With Goiter
Hypothyroidism refers to any state in which thyroid hormone production is below normal. Thyroid hormones have an effect on virtually every organ system in the body. There are many disorders that result in hypothyroidism. The disease is transmitted as an autosomal recessive gene. The genetic or congenital hypothyroidism may exist in a carrier state in as many as 30% of normal Toy Fox Terriers. About 1 in 4 members of a litter are affected if both parents are carriers.
Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinoses NCL, (also known as Batten Disease) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of fats and proteins known as lipopigments in the body's tissues. The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues and assume a greenish-yellow color when viewed under ultraviolet light. The end result is a progressive neurological disease including blindness. At the present, there is no known cure. This disease manifests itself as a progressive dementia that resembles Alzheimer’s symptoms. For example, some animals exhibit aggressive behavior, confusion, and problems adapting to environmental changes
TEST 5-B Most likely, death occurs by the time the dog is around three years old.
CystinuriaCystinuria is a disorder characterized by stones in the kidney, ureter, and bladder. It is caused by excessive excretion of certain amino acids (protein building blocks – specifically cystine, lysine, arginine and ornithine) due to a genetic abnormality that affects the renal tubular transport of these compounds.
The filtering action of the kidney fails to remove the excessive amino acids and they tend to form crystals, or stones, in the urine. These stones can block the urethra, especially in males, and impede the urinary stream. It generally takes a few years for the symptoms to appear.
NarcolepsyNarcolepsy is a chronic, neurological sleep disorder characterized by uncontrollable sleep attacks that result in excessive sleepiness. These sleep attacks usually occur multiple times a day even when an animal gets adequate sleep. Other symptoms include sleep paralysis, cataplexy, and hypnologic hallucinations.
Muscular DystrophyCanine Muscular dystrophy is a broad term that describes a inherited disorder of the muscles. The most common form of MD is called Duchenne muscular dystrophy (DMD). MD causes the muscles in the body to become very weak with degeneration and sporadic contractures. The muscles ultimately break down and are replaced with fatty deposits. When a mutation occurs in the dystrophin gene, the one that codes for a muscle cell membrane protein called dystrophin, the disruption causes a break in the mechanical links that work together to stabilize the muscle. This gene is located on the X chromosome.
Globoid Cell LeucodystrophyThis disease is often called Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis or GCL) and is a rare, often fatal degenerative disorder that affects the brain and nervous system. As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin. GCL disease is caused by mutations in the GALC gene, which causes a deficiency of a critical enzyme. The official name of the GALC gene is “galactosylceramidase but is often called galactocerebroside -galactosidase. The buildup of undigested fats affects the growth of the nerve’s protective myelin sheath (the covering that insulates many nerves) and causes severe degeneration of mental and motor skills.
Von Willebrand DiseaseVon Willebrand Disease (vWD) is a common genetic bleeding disorder that can occur in dogs. In fact, it is not a single disease, but a family of related diseases of variable severity. All the different types in humans and in dogs are caused by a problem with the Von Willebrand Factor (vWF). This is a protein in blood which is necessary for proper blood coagulation, or clotting. When there is not enough of the protein in the blood, bleeding can be uncontrolled and sometimes life threatening. Symptoms can include undue bleeding of the umbilical cord at birth, extended bleeding at the time of tail docking, blood in the urine, or swelling in various body parts. Not all animals show clinical symptoms.
Different types of vWD are found in different breeds of dogs.
GangliosidosisGM1 gangliosidosis is a genetic lipid storage disorder that is similar in certain respects to Hurler syndrome and Tay-Sachs disease in humans. GM1 gangliosidosis is one of the classic lipid storage diseases. It affects both the brain and the viscera (the internal organs) of the dog. GM1 gangliosidosis causes skeletal deformities and imparts severe effects on the brain and internal organs. Death usually occurs by the age of 2. The gene responsible for it maps to chromosome 23 in the dog. There is no treatment for the disease. It is also known as familial neurovisceral lipidosis or Landing disease in the human.
Different types of PRA are found in different breeds of dogs.
Mucopolysaccharidosis Type VIIMPS VII is one of the least common forms of the mucopolysaccharidoses. The disorder is caused by deficiency of the enzyme beta-glucuronidase (GUSB). In its rarest form MPS VII causes puppies to be born with hydrops fetalis, in which extreme amounts of fluid are retained in the body. Neurological symptoms may include mild to moderate mental retardation, communicating hydrocephalus, nerve entrapment, corneal clouding, and some loss of peripheral and night vision. Other symptoms include short stature, some skeletal irregularities, joint stiffness and restricted movement, and umbilical and/or inguinal hernias.
Hemophilia BHemophilia B is a hereditary blood coagulation disorder. It is caused by a deficiency of a blood plasma protein called factor IX that affects the clotting property of blood. Dogs that have this disorder bleed very easily, as after customary vaccinations. They often have bloody diarrhea and/or lameness.
The disease is inherited as X-linked, meaning that the male dog (carries a Y and an X chromosome) is either clear or affected – he cannot be a carrier. However, the female dog carries two X chromosomes and can be homozygous for the disease on both X chromosomes and thus, affected; or she can carry the disease on one X chromosome and show no clinical signs; or can be clear of the disease and have no point mutations that code for the disease on the X chromosomes.
Phosphofructokinase DeficiencyPhosphofructokinase Deficiency is a genetic disorder that interferes with the ability of muscles to use carbohydrates (such as glucose) for energy. It is also known as Tarui's Disease. The SNP detected in the test codes for an enzyme known as PFK (Phosphofructokinase). This enzyme is critical for energy production from sugar supplies in all cells of the body, especially muscle and red blood cells. A major symptom of the disease is muscle pain during intense exercise. Other disease symptoms are signs of discolored or darker urine, muscle weakness and cramps, anemia, and exercise intolerance. The term PFK refers to similar disorders that appear in both humans and some other mammals, especially dogs. There are no apparent successful treatments for the disorder.
No breed is entirely free of the disease.
Severe Combined Immunodeficiency DiseaseSevere combined immunodeficiency, or SCID, is a genetic disorder in which both B cells and T cells of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and must be kept isolated from others.
The disease is transmitted in an X-linked recessive pattern. Thus, only males are affected and show symptoms of the disease. As in other X-linked genetic diseases, females may be carriers of the trait. Therefore, one-half of her male puppies will have the disease gene.
After weaning, and thus being deprived of the mother’s immunoprotective milk, pups become afflicted with physical problems such as respiratory infections, ear and skin infections and diarrhea. None of these conditions responds well to antibiotic therapy. There is no known cure for this disease.
TEST 15-C The test for this gene is primarily found in the Jack Russell Terrier. It doesn't matter what type/style; Shorties, Parsons, English, Irish... all Jack Russell lines.
Thrombasthenic ThrombopathiaThrombopathia 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. Affected animals have lengthened times of bleeding after injury or blood drawing. The animals often develop deep bruises at the site of an injury.
The SNP test for this disorder detects changes in the gene that codes for a glycoprotein that is part of the platelet. There is no explicit procedure to treat this disorder. However, plasma from normal donor dogs can help acute bleeding. Also, if the animal is anemic, a transfusion of whole blood may be given.
Cone DegenerationCone Degeneration (CD) disease causes day blindness due to degeneration of the retinal “cones” – cone-shaped cells in the retina that respond primarily to bright daylight. CD can be diagnosed in the early weeks of the German Shorthaired Pointer’s life. Between 8 and 12 weeks of age, when retinal development is normally completed in dogs, signs of vision problems are noticeable. The pups become day-blind and are photophobic – meaning that exposure to bright light is irritating or even painful. The pup will shun brightly lit areas. Vision in dim light remains normal, in contrast to PRA affected dogs which is the more common type of retinal disease. The retina of the affected dog initially appears normal when examined by an ophthalmologist and initially the ERG (electroretinogram) recording is normal. However, the ERG response from the degenerating cones declines with age and is non-recordable in the mature CD-affected dog. There is no treatment or cure available for either canine or human disease.
Retinal DystrophyMutations of genes encoding various retina-specific proteins are known to cause a wide spectrum of inherited retinal dystrophies in different species. In the canine, several types of genetic retinal dystrophies have been described affecting primarily the photoreceptors and/or the retinal pigment epithelium. Retinal tissue, located inside the back of the eye, contains specialized cells called photoreceptors that absorb the light focused on them by the eye’s lens, and converts that light, through a series of chemical reactions into electrical nerve signals. The nerve signals from the retina are passed by the optic nerve to the brain where they are perceived as vision. The retinal photoreceptors are specialized into rods, for vision in dim light (night vision), and cones for vision in bright light (day and color vision). With Retinal Dystrophy the abnormal development of the retina usually affects the rods initially, and then cones in later stages of the disease. This disease is very closely related to various Progressive Retinal Atrophy disorders.
Mucopolysaccharidoses Type VI &VI MildMPS VII is one of the least common forms of the mucopolysaccharidoses. The disorder is caused by deficiency of the enzyme beta-glucuronidase (GUSB). In its rarest form MPS VII causes puppies to be born with hydrops fetalis, in which extreme amounts of fluid are retained in the body. Neurological symptoms may include mild to moderate mental retardation, communicating hydrocephalus, nerve entrapment, corneal clouding, and some loss of peripheral and night vision. Other symptoms include short stature, some skeletal irregularities, joint stiffness and restricted movement, and umbilical and/or inguinal hernias.
The disease is inherited as an autosomal recessive lysosomal storage disorder.
The disease is autosomal recessively inherited.
The disease is inherited as an autosomal recessive lysosomal storage disorder.
The disease gene is inherited as an autosomal recessive mode.
This condition is inherited as an autosomal recessive pattern.
More information to come as newer testing becomes available - Visit COLOR GENES for additional info
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