Referenced from and full credit given to GENOSCOPER®.
Bleeding Disorder, Due to a Defect in the P2RY12 Receptor Protein - Affected dogs suffer from excessive and prolonged bleeding after a trauma or a surgery.
Cyclic Neutropenia (CN)-An immunodeficiency condition characterized by cyclic fluctuations in a dog’s white blood cell count that causes periodic susceptibility to infections. If untreated, most affected dogs die before 6 months of age.
Canine Leukocyte Adhesion Deficiency (CLAD) Type III - A rare immunological disorder. It is characterized by immunodeficiency, predisposing affected dogs to recurrent severe infections.
Canine Scott Syndrome (CSS) - Bleeding disorder caused by hereditary platelet dysfunction leading to abnormally slow clot formation at the site of vascular injury. Most common symptom is abnormal bleeding after surgery. Some dogs may have non-traumatic nosebleeds or hemorrhage into joints or soft tissues.
Hemophilia B - Blood disorder most commonly in males, characterized by excessive of life-threatening bleeding.
Factor VII Deficiency - Bleeding disorder characterized by excessive bleeding after a severe trauma or surgery.
Hemophilia A - Bleeding disorder characterized by hematomas or abdominal bleeding without apparent reason. If untreated, the disorder can lead to death caused by bleeding. The condition is usually more severe in large, active dogs. The disease is most commonly seen in males.
Factor XI Deficiency - Coagulation disorder characterized by slow clot formation at the site of vascular injury. The most severe effect of the disorder can be severe bleeding after surgery. Spontaneous bleeding caused by the disorder is usually mild. Many affected dogs also remain asymptomatic.
Methemoglobinemia - Characterized by an increase in the concentration of oxidized hemoglobin, which impairs the normal transport of oxygen to tissues, leading to cyanosis and exercise intolerance. Affected dogs usually have cyanotic gums, tongues, and ventrums and very dark blood when blood is drawn.
Glanzmann Thrombasthenia (GT) type I - Is a blood disorder characterized by poor blood platelet aggregation leading to bleeding issues; gums and nose and prolonged bleeding during trauma or surgery.
Hereditary Elliptocytosis - Characterized by abnormally shaped red blood cells or erythrocytes in the blood. Abnormal cells have an oval shape instead of the characteristic biconcave shape of canine erythrocytes. Abnormally shaped red blood cells are called elliptocytes or ovalocytes and are thought to cause hemolytic anemia.
Phosphofructokinase (PFK) Deficiency- PFK is an enzyme that is crucial for the production of energy from sugar sources in all cells of the body, especially red blood cells and muscle cells. Lack of this enzyme causes exertional myopathy and hemolysis resulting in a range of effects including weakness and muscle cramps, discoloured urine, anemia, and jaundice.
Congenital Macrothrombocytopenia - Characterized by oversized platelets and a low platelet count.
May-Hegglin Anomaly (MHA) - Causes deficiency and structural abnormalities of blood platelet cells. The disease does not usually cause clinical signs, although bruising or bleeding may be noted during surgery. Human patients have been reported to develop renal disease, hearing problems, and cataracts, although this has not been reported in dogs.
Prekallikrein Deficiency - Characterized by prolonged blood clotting time.
Pyruvate Kinase Deficiency - Causing hemolytic anemia and usually results in the death, prior to 5 years of age. Clinical signs include; anemia, drowsiness, pale mucous membranes, enlargement of the spleen and liver, osteosclerosis and myelofibrosis.
Trapped Neutrophil Syndrome (TNS) - Severe white blood cell disorder resulting in a shorter life expectancy. Clinical signs include; Neutropenia Myeloid hyperplasia, chronic infections, abnormal craniofacial features and delayed development.
Von Willebrand's Disease (vWD) Type 1- Bleeding disorder. Type 1 is the mildest form of vWD. Many cases are subclinical (some carriers can have clinical signs) but can be associated with an increased bleeding tendency after surgery or trauma.
Von Willebrand's Disease (vWD) Type 2 - Blood disorder affecting multiple breeds. Causes moderate to severe bleeding tendency due to low level and abnormal structure of von Willebrand's factor.
Von Willebrand's Disease (vWD) Type 3 - Bleeding disorder. Type 3 is the most severe form of vWD and is a moderate to severe clotting disorder. Typical clinical signs include mucosal bleeding (e.g. nose bleeding, bleeding from the gums, gastrointestinal bleeding and blood in the urine), exceptionally excessive and prolonged bleeding ( observed after a trauma or surgery) and spontaneous bleeding. This condition often leads to death if untreated. Most affected dogs will have a normal PT/aPTT but have prolonged bleeding (which can be assessed using a buccal-mucosal bleeding time). When assayed, these dogs have no appreciable levels of vWF present.
Dilated Cardiomyopathy (DCM) - Typical clinical signs include cardiac enlargement, poor myocardial contractility, arrhythmia, congestive heart failure and sudden cardiac death.
QT Syndrome - Rare disease associated with sudden death. The disease predisposes to fatal ventricular arrhythmias. Affected dogs exhibit no other cardiac symptoms before death. Some affected dogs may have a detectable systolic murmur or increased heart rate upon auscultation. The most characteristic sign of the disease is a prolonged QT-interval on ECG.
Dystrophic Epidermolysis - Affected dogs suffer from blistering of the skin and lesions in the oral cavity and upper digestive tract. Clinical signs may diminish around 8 months of age. The condition is characterized by a dysfunctional collagen protein that causes intradermal separation of the epidermis from the underlying dermis.
Epidermolytic Hyperkeratosis - Clinical signs include fragile skin, hyperkeratosis, and hyperpigmentation.
Hereditary Footpad Hyperkeratosis (HFH)/Focal non-epidermolytic palmoplantar keratoderma (FNEPPK)- Characterized by hard, thickened, and cracked footpads and severe keratinous proliferations along paw pads (horny protrusions) Unlike a similar condition in other breeds, FNEPPK affected dogs have a normal coat.
Hereditary Footpad Hyperkeratosis (HFH) - Characterized by hard, thickened, and cracked footpads and an abnormal coat. The coat is duller, less wiry (terriers) and softer.
Hereditary Nasal Parakeratosis - Causes the dog’s nose to be excessively dry. The condition results in the development of crusts and fissures of the nasal planum at a young age but affected dogs are otherwise healthy.
Ichthyoses - Affecting skin cornification. There are many different forms of ichthyoses and the genetic background and severity of the clinical signs vary between different dog breeds. The ichthyosiform disorder in American Bulldogs is visible before weaning and persists through life. The disorder is most probably linked to abnormal lipid metabolism in the epidermis. Signs include reddish-brown skin scaling and skin secondary skin infections.
Lamellar Ichthyosis (LI) - Causes severe hyperkeratosis (skin thickening). Affected dogs have thick, large scales around their body that can be either adherent or loose. Affected dogs are also susceptible to secondary bacterial and yeast (skin) infections.
Lethal Acrodermatitis - Characterized by poor growth, failure to thrive, immune deficiency, recurrent skin infections and skin lesions (especially on the paws), dilute coat in pigmented areas and abnormally arched hard palate. Affected dogs typically pass away from secondary infections or are euthanized by 2 years of age.
Ligneous Membranitis - Inflammatory disease of the mucous membranes caused by plasminogen deficiency. The disease is chronic and causes progressive ulcerative conjunctivitis, stomatitis and gingivitis. Affected dogs may also have nasal discharge, loud respiratory sounds and large lymph nodes.
Musladin-Lueke Syndrome (MLS) - Affects the development and structure of connective tissue. MLS is a multi-systemic condition characterized by stiff joints, broad skull, slanted eyes, an abnormal facial expression and thick, tight skin.
X-Linked Ectodermal Dysplasia (XHED) - AKA Anhidrotic Ectodermal Dysplasia. Causes skin, dental, and immune system problems. Also characterized by hair loss and lack of sweat glands. Condition is seen most commonly in males.
Congenital Hypothyroidism - Signs include slow growth, drowsiness, disproportionate dwarfism, goiter, mental impairment, abnormal hair coat.
Autosomal Recessive Severe Combined Immunodeficiency (ARSCID) - Severe immunodeficiency disorder characterized by recurrent infections, lymphopenia and lymphoid hypoplasia. Affected dogs usually die at a young age.
Complement 3 (C3) Deficiency - Causes immunodeficiency characterized by recurrent bacterial infections and renal disease. Treatment with antibiotics is supportive but not curative.
Severe Combined Immunodeficiency (SCID) - Immunological disorder characterized by the dysfunction of T- and B-lymphocytes. Immunodeficiency predisposes affected dogs to recurrent infections. Clinical signs include failure to thrive, diarrhea, seizures, and neurological signs.
X-Linked Severe Combined Immunodeficiency (X-SCID) - Severe dysfunction of the immune system affecting males. Symptoms include immunodeficiency, lymphopenia, lack of lymphnodes, vomiting, diarrhea, failure to thrive and opportunistic infections.
Glycogen Storage Disease Type Ia (GSD Ia) - Severe. Failure of glucose metabolism causes glycogen accumulation leading to hypoglycemia, lactic acidosis causing low blood pH, hyperuricemia, hepatomegaly, coma and death.
Glycogen Storage Diseases Type II or Pompe's Disease, (GSD II) - Disorder of carbohydrate metabolism. Glycogen storage disease type II or Pompe’s disease is one of the inherited glycogen storage diseases causing muscle weakness. The clinical signs of GSDII include poor growth, recurrent vomiting and regurgitation (due to a dilated esophagus), progressive muscle weakness, exercise intolerance, and heart abnormalities. Clinical signs are usually observable at 6 month of age. The life expectancy of affected dogs is less than 2 years unless euthanized earlier.
Glycogen Storage Disease Type IIIa - Disorder of glycogen metabolism. The clinical signs of GSD IIIa include fatigue, exercise intolerance, and hypoglycemic collapses caused by low blood sugar. Characteristic signs can be observed at around 14 months of age.
Hypocatalasia or Acatalasemia - Deficiency of catalase enzyme activity in red blood cells. The catalase enzyme plays an important role in the cellular defense against oxidative damage. The acatalasemia phenotype caught particular interest as an animal model of a human condition called Takahara’s disease. The disorder is characterized by ulcers and progressive gangrene (tissue death) of the oral cavity. Carriers may potentially show some degree of clinical signs.
Intestinal cobalamin malabsorption or Imerslund-Gräsbeck syndrome (IGS) - Metabolic disorder. Failure to absorb cobalamin in the small intestine results in slow growth, loss of appetite, anemia, and neutropenia. The underlying cause for intestinal cobalamin malabsorption is a defect in cobalamin receptors in the ileum.
Mucopolysaccharidoses Type IIIA, (MPS IIIA) - Rare inherited lysosomal storage disorder resulting from a deficiency in the enzymes required for degradation of glycosaminoglycans. Enzyme deficiency causes accumulation of metabolic by-products in cells disrupting their normal function. Several different forms of mucopolysaccharidoses with different clinical signs have been recognized in dogs. MPS IIIA is characterized by progressive neurological signs with little effect on bones and other organs as occurs in other forms of mucopolysaccharides. Symptoms include pelvic limb ataxia, severe generalized spinocerebellar ataxia, hypermetria and exaggerated reflexes.
Mucopolysaccharidosis Type VII, (MPS VII) - Rare inherited lysosomal storage disorders resulting from a deficiency in the enzymes required for degradation of glycosaminoglycans. Enzyme deficiency causes accumulation of metabolic by-products in cells disrupting their normal function. Several different forms of mucopolysaccharidoses with different clinical signs have been recognised in dogs. The disorder causes severe skeletal defects. Symptoms include dysmorphia, skeletal lesions and death.
Pyruvate Dehydrogenase Phosphatase 1 (PDP1) Deficiency - Inherited metabolic disorder due to a deficit of the PDP1 enzyme which is normally involved in the activation of the pyruvate dehydrogenase complex in cellular metabolism. PDP1 deficiency is characterized by exercise intolerance and lactic acidosis, but affected dogs can ease symptoms by resting.
Cavalier King Charles Spaniel Muscular Dystrophy, (CKCS-MD) - Causes muscle degeneration and formation of excess connective tissue. DMD is characterized by spinal curvature and a crouched posture. Symptoms include muscle fibrosis, high serum creatine kinase concentration, thick tongue base and excessive saliva. Mainly males are affected, although some female carriers are suggested to suffer from less severe muscle weakness. Affected puppies are usually euthanized at a young age because of the severity of the disorder.
Centronuclear Myopathy (CNM) - Muscle disease whereby the severity of clinical signs and age of onset varies. Common symptoms are ventroflexion, muscle weakness and skeletal muscle atrophy, causing exercise intolerance and posture abnormalities.
Duchenne or Dystrophin Muscular Dystrophy (DMD) - Severe X-linked disorder that causes muscle degeneration and formation of excess connective tissue. DMD is characterized by spinal curvature and a crouched posture. Due to the X-linked recessive mode of inheritance, mainly males are affected, although some female carriers were suggested to suffer from less severe muscle weakness. Symptoms include muscle fibrosis, high serum creatine kinase concentration, thick tongue base and excessive salivation. The disorder is caused by several different mutations in the dystrophin gene and affected puppies are usually euthanized at a young age because of the severity of the disorder.
Muscular Dystrophy, Ullrich-type - Disorder leading to muscular dysfunction. A specific form of the disease has been described in the Landseer. Muscular dystrophy in Landseer dogs causes difficulty on ambulation and atrophied muscles in young puppies. Clinical signs progress and affected dogs are euthanized before 2 years of age due to severe muscular weakness.
Muscular Hypertrophy/Double Muscling - Characterized by increased muscle mass. The trait is caused by a mutation in the myostatin (MSTN) gene. Myostatin regulates the size of muscles and prevents them from growing too large.
Myotonia Congenita - Muscular disorder characterized by hyperexcitable muscles that contract easily, stiff movements, delayed muscle relaxation after exercise, hypertrophic skeletal muscles and Bunny-hop-like movement.
Myotubular Myopathy - Characterized by early-onset pelvic limb weakness, progressing into an inability to move. Dogs with this disease generally present with muscle weakness, muscle atrophy, eating difficulties, respiratory distress, absence of patellar reflexes, inability to rise and walk and delayed motor milestones. The condition is seen most commonly in males.
Nemaline Myopathy - Rare muscular disorder that is characterized by nemaline rod bodies inside muscle fibers. Nemaline myopathy can be either hereditary or acquired and there are different forms of the disorder. Symptoms include muscle weakness, exercise intolerance and tremors.
X-linked Myotubular Myopathy - Characterized by early-onset pelvic limb weakness, progressing into an inability to move. Dogs with this disease generally present with muscle weakness, muscle atrophy, eating difficulties, respiratory distress, absence of patellar reflexes, inability to rise and walk and delayed motor milestones. Most commonly seen in males.
Acral Mutilation Syndrome - Severe hereditary sensory neuropathy. Characterized by loss of pain sensation in the paws that causes paw ulceration and self-mutilation. This disorder is caused by the abnormal development and progressive degeneration of sensory neurons. Motor neurons are not affected by this disorder.
Alaskan Husky encephalopathy (AHE) - Severe, early-onset disorder of the central nervous system. The disorder often affects multiple dogs from the same litter. The underlying cause is a mutation in the gene encoding a transporter protein required for thiamine transport into the cells of the central nervous system. Signs include seizures, altered mentation, behavioral abnormalities, dysphagia, central blindness, hypermetria, ataxia and tetraparesis. Affected dogs are usually euthanized within 2-7 months from the onset of clinical signs.
Alexander Disease (AxD) - Rare, fatal hereditary neurological disease. The disorder causes progressively worsening weakness of voluntary movement in all limbs. The disorder is caused by the dysfunction of astrocyte cells in the central nervous system and symptoms include progressive tetraparesis, regurgitation and myoclonic jerks.
Bandera's Neonatal Ataxia, (BNAt) - Inherited ataxias (i.e. cerebellar ataxias) are a heterogenic group of disorders. Onset and progression depend on the type of ataxia in question. Clinical signs may occur in young puppies, juveniles, or in dogs a few years of age. Neonatal (i.e. newborn) cerebellar ataxia is an early onset, severe neurological disease. Affected puppies show clinical signs such as difficulties in movement starting at 2 weeks of age. Other symptoms include head titubation and intention tremors.
Benign familial juvenile epilepsy (BFJE) - Affected dogs suffer from focal-onset epileptic seizures in puppyhood. The seizures invariably resolve spontaneously by four months of age. In some cases, carriers might also present epileptic signs.
Cerebellar Cortical Degeneration or Cerebellar Abiotrophy - Characterized by progressive degeneration of neurons in the cerebellar cortex. An affected dog suffers from ataxia (uncoordinated movements) with abnormal length of movement. Another symptom is intention tremors. The age of onset and the progression of clinical signs seem to vary in affected breeds due to different causative mutations.
Severe Cerebral Dysfunction - Affected puppies exhibit severe, progressing cerebral signs leading to euthanasia under 4 months of age. Symptoms include mental depression, excessive sniffing and circling, walking backwards and limb weakness. Affected puppies do not exhibit any abnormalities in routine blood work, cerebrospinal fluid analysis or magnetic resonance imaging. The disease is caused by altered function of the dopamine transporter.
Dandy-Walker-Like Malformation (DWLM) - Caused by uniform cerebellar malformations with the absence of the cerebellar vermis and caudal portions of the cerebellar hemispheres associated with large retrocerebellar fluid accumulations. The inheritance pattern is autosomal recessive. Most affected breeds include the Chow Chow, Boston Terrier, Bull Terrier, Airedale Terrier, Weimaraner, Shih Tzu, Dachshund, Miniature Schnauzer, and Labrador Retriever. Symptoms include ataxia of varying severity, epileptic seizures and cerebellar hypoplasia.
Degenerative Myelopathy (DM) - Neurologic disorder characterized by a slow progression of loss of coordination staring in the hind limbs, moving upward, with the dog becoming increasingly more paralyzed. The clinical signs are related to the degeneration of the white matter of the spinal cord and generally result in euthanasia.
Early-Onset Progressive Polyneuropathy - Characterized by the dysfunction and atrophy of multiple nerve types and will eventually lead to tetraparesis. Symptoms include walking difficulties, exercise intolerance, voice changes, progressive severe muscle atrophy, ataxia, paralysis of larynx and extremities.
Fetal Onset Neuroaxonal Dystrophy, (FNAD) - Dogs with fetal onset neuroaxonal dystrophy (FNAD) die upon birth due to respiratory failure. Symptoms before death are arthrogryposis, scoliosis and hypoplasia of lungs, brain, and spine.
Hereditary Ataxia or Cerebellar Ataxia - Hereditary ataxias are a heterogeneous group of disorders characterized by neuronal degeneration of the cerebellar cortex (also known as cerebellar abiotrophy or cerebellar cortical degeneration in dogs). Degeneration of the cerebellar nerve cells leads to progressive ataxia (lack of normal coordination of movement), hypermetria, intention tremors and wide-based stance. Onset of clinical signs and pattern of progression varies in different forms of the condition. The onset of clinical signs can be in puppyhood, at a young age, or in adulthood depending on the form of the cerebellar ataxia.
Hyperekplexia or Startle Disease - Signs of hyperekplexia can be seen in very young puppies. Affected puppies suffer from difficulty or inability to stand, rigid posture, cyanosis and muscle stiffness and tremor when handled. They are usually euthanized before three months of age.
Hypomyelination - Characterized by delayed myelination of the central nervous system. Myelin is an insulating substance surrounding the axons of the cells of the central nervous system. Hypomyelination causes locomotory difficulties, action tremors and generalized tremors in puppyhood.
Juvenile encephalopathy - Severe early onset disease at 6-12 weeks of age. Symptoms include epileptic seizures and progressive brain damage.
Juvenile Myoclonic Epilepsy - Signs emerge at a young age. First signs of the diseases are muscle jerks/twitches which can progress to generalized seizures. Epileptiform activity is triggered usually by resting or by visual stimulus (light).
L-2-Hydroxyglutaric aciduria (L2HGA) - Inherited inborn error of intermediary metabolism. Causes the enzyme that breaks down L-2-hydroxyglutaric acid to be defective and therefore concentrations in the body increase; high concentrations are particularly toxic to tissues in the central nervous system. Typically, the disease presents itself between six months and one year of age but can be presented as late as seven years of age, with neurologic clinical signs including: ataxia, muscle stiffness at exercise or excitement, altered behavior and epileptic seizures.
Lagotto Storage Disease (LSD) - Progressive neurological disorder characterized by cerebellar ataxia. Histological examination reveals neuronal vacuolization in the peripheral and central nervous systems. Aggregation of vacuoles can also be seen in several other tissues, but only vacuolization of the nerve cells seems to be relevant. Symptoms include ataxia, episodic nystagmus and changes in behavior (restlessness, depression, aggression).
Neonatal Cerebellar Cortical Degeneration or Cerebellar Abiotrophy, (NCCD) - Characterized by progressive degeneration of neurons in the cerebellar cortex. An affected dog suffers from ataxia (uncoordinated movements) and dysmetria (improper measuring of distance in muscular acts) and loss of balance. The age of onset and the progression of clinical signs seem to vary in different breeds due to different causative mutations.
Neonatal Encephalopathy with Seizures, (NEWS) - Symptoms include ataxia, muscle weakness, difficulties nursing, generalized seizures and death. Life expectancy of affected dogs is less than seven weeks.
Neuroaxonal Dystrophy (NAD) - Clinical signs appear between six and eleven months of age. Affected dogs are presented with progressing neurological signs such as gait abnormalities, abnormal vocalisation, incontinence, and behavioural changes. Clinical signs are progressive and usually result in euthanasia over quality of life concerns.
Neuronal Ceroid Lipofuscinosis 1, (NCL1) - Characterised by excessive accumulation of lipofuscin and ceroid lipopigments in the central nervous system and other tissues. Different forms of NCLs differ by age of onset and pattern of progression. Usually progressive loss of vision is the first observable sign. In addition, the clinical signs of NCLs include ataxia (uncoordinated movements), seizures, and behavioral changes, such as aggression.
Neuronal Ceroid Lipofuscinosis 10, (NCL10) - Characterized by excessive accumulation of lipofuscin and ceroid lipopigments in the central nervous system and other tissues. Different forms of NCLs differ by age of onset and pattern of progression. Though progressive loss of vision is usually the first observable sign, and is followed by other brain-related signs, NCL type 10 significantly differs from the other forms of NCL as the clinical signs are all related to locomotion. Signs include night blindness, cerebellar ataxia, seizures, vision impairment, cognitive decline, aggressiveness and loss of training.
Neuronal Ceroid Lipofuscinosis 8, (NCL8) - Characterized by excessive accumulation of lipofuscin and ceroid lipopigments in the central nervous system and other tissues. Different forms of NCLs differ by age of onset and pattern of progression. Usually progressive loss of vision is the first observable sign. In addition, the clinical signs of NCLs include ataxia (uncoordinated movements), seizures, anxiety, sensitivity to touch and sound, ataxia and behavioral changes, such as aggression.
Neuronal Ceroid Lipofuscinosis, (NCL7) - Clinical signs may start with compulsory behavior signs and develop into impairment of vision and degeneration of cognitive and motor skills.
Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation, (POANV) - Disorders resembling the human Warburg micro syndrome are seen in dogs. Characterized by polyneuropathy with ocular abnormalities and neuronal vacuolization (referred as POANV). The subtypes exhibit different characteristics and affect different breeds. Symptoms include ataxia, weakness, microphthalmia and laryngeal paralysis.
Progressive Early-Onset Cerebellar Ataxia - Characterized by degeneration of cerebellar nerve cells. Neuronal degeneration causes ataxia (uncoordinated movements), failure to thrive and loss of balance. Affected puppies are often euthanized within a month of the onset of symptoms.
Sensory Neuropathy - Clinical signs emerge in puppyhood. Affected dogs have proprioceptive deficits and harm themselves due to lack of pain sensation. Other symptoms are uncoordinated gait and knuckling of hind paws.
Shaking Puppy Spongiform Leuco Encephalo Myelopathy (SLEM) - Affected pups exhibit severe generalized body tremors that are most severe in the hind limbs and result in a side-to-side swinging or a “rocking horse” movement. Tremors disappear when asleep or at rest. Clinical signs are apparent as soon as affected puppies begin to support weight and attempt to walk at approximately 2 weeks of age, although occasionally clinical signs do not appear until 8-10 weeks of age.
Spinal Dysraphism - Malformation of the spinal cord that occurs as a result of abnormal prenatal development of the neural tube. Symptoms include "bunny-hopping" hind limb gait, paraparesis, crouching stance, scoliosis of the lumbar spine and kinked tail.
Spinocerebellar Ataxia with Myokymia and/or Seizures (SCA) - Characterized by uncoordinated movements and impaired balance. Caused by a mutation in KCNJ10 gene and is associated with neuromyotonia, myokymia and/or seizures.
Spinocerebellar Ataxia/ Late-Onset Ataxia (SCA, LOA) - Characterized by uncoordinated movements and impaired balance. Clinical signs include ataxia, difficulty in climbing stairs and jumping, hypermetria and impaired balance.
Spongy Degeneration with Cerebellar Ataxia, (SDCA1) - SeSAME/EAST is a rare hereditary neurological disorder encountered in humans and dogs can suffer from a syndrome that is similar to this human condition. Age of onset is 4-8 weeks and symptoms include ataxia, myokymia, neuromyotonia and seizures.
Spongy Degeneration with Cerebellar Ataxia, (SDCA2) - SeSAME/EAST is a rare hereditary neurological disorder encountered in humans and dogs can suffer from a syndrome that is similar to this human condition. Age of onset is 4-8 weeks and symptoms include ataxia, myokymia, neuromyotonia and seizures.
X-Linked Tremors - Disorder of the central nervous system. Normally, oligodendrocytes produce an insulating myelin sheath that covers the axons of the nerves. Abnormal differentiation of oligodendrocytes causes lack of myelin production, tremors, and premature death. Only males are affected and symptoms include generalized tremor, reduced weight and body size and convulsions.
Congenital Myasthenic Syndrome (CMS) - Symptoms involve generalized neuromuscular disease with short-strided tetraparesis that worsens with exercise. Symptoms are present at a very young age. Muscle weakness results from a defect in the synthesis of acetylcholinesterase and is characterized by temporary collapse/paralysis induced by exercise.
Episodic falling (EF) - Causes the temporary inability to relax muscles. EF is characterized by increased muscle tone and muscle spasticity in all four limbs resulting in collapse episodes which are usually a few seconds to several minutes long. The episodes are often associated with exercise, excitement, or stress and cause collapse.
Exercise-Induced Collapse (EIC) - Presents as exercise intolerance in otherwise normal dogs. Affected dogs appear normal during low to moderately strenuous activity, but they develop a wobbly, uncoordinated gait that is most severe in the hind limbs after brief bouts of strenuous activity. Symptoms include hind limb weakness, ataxia after intense exercise and in severe cases short-term - flaccid paralysis.
Globoid Cell Leukodystrophy or Krabbe Disease - Causes severe neuronal degeneration. The underlying cause of the disorder is a deficiency of a lysosomal galactocerebrosidase enzyme. This enzyme deficiency causes defects in the production of myelin that protects and insulates neurons. Symptoms include muscle weakness, ataxia, tremor, paralysis and behavioral changes.
GM1 Gangliosidosis - Progressive lysosomal storage disease causing neuromuscular dystrophy. Characterized by dwarfism, vision impairment, head tremor, limb weakness and difficulties when walking.
GM2 Gangliosidosis - Lysosomal storage disease causing progressive degeneration of nervous tissue. Characteristic signs include ataxia, intention tremors of the head, vision impairment, altered mental status, and feeding difficulties. GM2 gangliosidosis is a progressive condition and affected dogs are usually euthanized by two years of age.
Paroxysmal Dyskinesia (PxD) - Causes episodes of abnormal tone or movement of limbs. Affected dogs seem normal between these episodes. No abnormalities are seen in the MRI or postmortem examination of the brain.
Canine Multifocal Retinopathy 1 (CMR1) - Characterized by several localized, round, bullous alterations of variable size and location in the retina that cause retinal decay.
Canine Multifocal Retinopathy 2 (CMR2) - Characterized by several localized, round, bullous alterations of variable size and location in the retina that cause retinal decay.
Canine Multifocal Retinopathy 3 (CMR3) - Characterized by several localized, round, bullous alterations of variable size and location in the retina that cause retinal decay.
Cone Degeneration, (CD) or Achromatopsia - Also called “day-blindness” is an inherited eye disorder causing photophobia and an inability to see in bright light.
Cone-Rod Dystrophy 1 (crd1) - Resulting in retinal degradation at a young age and occurs in several different forms in various different dog breeds.
Cone-Rod Dystrophy 2 (crd2) - Early-onset eye disorder characterized by retinal degeneration. Several forms of cone-rod dystrophy have been encountered in various breeds.
Cone-Rod Dystrophy (cord1-PRA / crd4) - Progressive retinal atrophy (PRA), where the photoreceptors of the eye (i.e. cone and rod cells) degenerate usually causing blindness.
Cone-Rod Dystrophy, Standard Wirehaired Dachshund, (crd SWD) - Progressive retinal atrophy affecting Standard Wirehaired Dachshunds. Gradual loss of photoreceptors eventually leads to blindness in affected dogs.
Congenital Eye Disease - Causes the affected puppies to have abnormally small and underdeveloped eyes (microphthalmia) resulting in incurable blindness. The causative mutation in the RBP4 gene results in A vitamin deficiency leading to eye defects of the developing fetuses. Characterized by micropthalmia, coloboma, choroidal hypoplasia (CH) and blindness.
Dominant Progressive Retinal Atrophy (DPRA) - Form of progressive retinal atrophy (PRA) characterized by degeneration of retinal photoreceptors that result in blindness. Affected dogs eventually develop blindness.
Early Onset PRA (EOPRA) - Characterised by retinal degeneration and progressive loss of vision leading eventually to blindness.
Early Retinal Degeneration (erd) - Characterized by retinal degeneration and progressive loss of vision leading eventually to blindness. Many of the causative mutations behind different forms of PRA have been identified, but some have not. Early retinal degeneration (erd) is an eye disorder causing early onset blindness. Also characterized by night blindness and tunnel vision.
Generalized Progressive Retinal Atrophy - Characterized by retinal degeneration and progressive loss of vision leading eventually to blindness.
Golden Retriever Progressive Retinal Atrophy 1, (GR_PRA 1) - Characterized by retinal degeneration and progressive loss of vision leading eventually to blindness.
Goniodysgenesis and Glaucoma - Affecting intraocular fluid circulation and causing increased intraocular pressure. The elevated intraocular pressure damages the optic nerve and retinal cells and leads to blindness if untreated. Glaucoma can be preceded by goniodysgenesis, which is a developmental abnormality of the anterior chamber of the eye that has been associated with glaucoma and blindness.
Italian Greyhound Progressive Retinal Atrophy 1 (IG-PRA1) - Retinal dystrophy commonly leading to blindness.
OptiGen® Collie Eye Anomaly (CEA) - Found in multiple breeds. Severity of the disease varies greatly between dogs and mildly affected dogs can have puppies that are severely affected and vice versa. Clinical signs include impaired vision, choroid hypoplasia, colobomas and retinal detachment
OptiGen® Progressive Rod Cone Degeneration, (prcd-PRA) - Retinal dystrophy commonly leading to blindness. Prcd-PRA is a very common form of PRA. This disease is caused by the degeneration of photoreceptor cells of the retina.
Primary Hereditary Cataract (PHC) - Characterized by cataracts with different level of severity in different parts of the lens. Clinical signs are opacities in the eyes, cataract loss of vision and blindness.
Primary Lens Luxation (PLL) and Glaucoma - Affecting intraocular fluid circulation and causing increased intraocular pressure. The elevated intraocular pressure damages the optic nerve and retinal cells and leads to blindness if untreated. Primary lens luxation (PLL) is an inherited condition in dogs where the ocular lens gets displaced and endangers their vision. Signs include redness and pain of the eyes, increased intraocular pressure, subluxation and luxation of the lens and blindness.
Primary Lens Luxation (PLL) - Can cause displacement of the ocular lenses. The disorder is caused by degeneration of the zonular fibers that are required for attachment of the lens. When the lens luxates, it may do so either anteriorly or posteriorly.
Primary Open Angle Glaucoma, (POAG) - Characterized by defects in the normal flow of intraocular fluid leading to elevated intraocular pressure which can in turn damage the optic nerve and retina. This condition leads to blindness if it is left untreated. Signs include elevated intraocular pressure, loss of vision and ocular pain.
Progressive Retinal Atrophy (PRA4) - Characterized by retinal degeneration and progressive loss of vision culminating in blindness. Prior to blindness, signs are night blindness, progressive vision loss and reduction of the visual field.
Progressive Retinal Atrophy Type III (PRA type III) - Characterized by retinal degeneration and progressive loss of vision culminating in blindness. Prior to blindness, signs are progressive retinal degeneration and vision loss.
Progressive Retinal Atrophy (CNGA1-PRA) - Retinal dystrophy commonly leading to blindness.
Progressive Retinal Atrophy (PAP1_PRA) - Characterized by retinal degeneration and progressive loss of vision culminating in blindness. Prior to blindness, degeneration of the photoreceptor cells of the retina is observed.
Progressive Retinal Atrophy (PRA) - Characterized by retinal degeneration and progressive loss of vision culminating in blindness. Signs include progressive vision loss, night blindness and reduction of the visual field.
Rod-Cone Dysplasia 1 (rcd1) - Causing photoreceptor degeneration that result in blindness. Signs before blindness are night blindness and loss of vision.
Rod-Cone Dysplasia 1a (rdc1a) - Causing photoreceptor degeneration that result in blindness. Signs before blindness are night blindness and loss of vision.
Rod-Cone Dysplasia 3, (rcd3) - Development of retinal photoreceptors is disturbed. Rcd3 causes blindness. Night blindness and loss of vision is observed prior to blindness.
X-Linked Progressive Retinal Atrophy 1 (XLPRA1) - Characterized by retinal degeneration and progressive loss of vision leading eventually to blindness. Most commonly in males.
X-Linked Progressive Retinal Atrophy 2 (XLPRA2; Type A PRA) - Characterized by retinal degeneration and progressive loss of vision leading eventually to blindness. Seen most commonly in males. Prior to blindness, signs include night blindness and tunnel vision.
Acute Respiratory Distress Syndrome (ARDS) - Life-threatening disorder that causes acute, severe respiratory failure that is unresponsive to treatment.
Amelogenesis Imperfecta (AI) - AKA enamel hypoplasia. Characterized by defects in enamel formation. Enamel is a hard, smooth substance that covers the crown of the tooth providing protection to the underlying dentine. Normal enamel functions to strengthen the teeth, seal the teeth from bacteria, and prevent plaque from accumulating on the surface of the teeth. The clinical signs of amelogenesis imperfecta include enamel thinning and roughening, small, pointed teeth and discoloration of the teeth.
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID) - AKA “dry eye, curly coat syndrome”. Causes eye, nail, skin, and dental problems. Clinical signs include curly and rough hair, dry eyes, scale, hyperpigmentation, hyperkeratinization and dental problems.
Dental Hypomineralization - Caused by abnormal mineralization of teeth during dental development. The disease causes abnormal tooth wear, pulpitis and tooth loss. Other clinical signs include pulpitis, teeth loss.
Narcolepsy - Causes sudden attacks of sleep due to the brain's inability to regulate REM sleep. The clinical signs of narcolepsy include drowsiness and disrupted sleep patterns, and are usually observed by 6 months of age. The condition is not progressive or life-threatening. Signs include excessive daytime sleepiness or decreased activity and cataplex.
Persistent Müllerian Duct Syndrome (PMDS) - Disorder of sexual development, PMDS is characterized by Müllerian duct derivatives (e.g., uterus) developing in otherwise externally normal-appearing males. Only manifests in males, although it is inherited via females. Clinical signs include internal female reproductive organs in externally normal males, cryptorchidism, sterility or subfertility, uterine infections and sertoli cell tumor.
Primary Ciliary Dyskinesia (PCD) - Found to affect ciliary formation in multiple breeds, causing recurrent respiratory tract inflammations, situs inversus or heterotaxy and infertility in males.
2,8-Dihydroxyadenine (2,8-DHA) Urolithiasis - Causes the formation of 2,8-dihydroxyadenine stones in the urinary tract which can result in an obstruction. The disorder is caused by the deficiency of the enzyme that is needed for adenine metabolism. It is possible that this disease affects only male dogs, particularly neutered male dogs.
Cystic Renal Dysplasia and Hepatic Fibrosis - Lethal ciliopathy that is characterized by diffuse cystic renal disease and hepatic fibrosis that can be fatal. Characterised by developmental fibrocystic abnormalities such as polycystic kidneys ad congenital hepatic fibrosis.
Cystinuria Type I-A - Dogs with cystinuria are not able to reabsorb the amino acid cystine in their kidneys and therefore high concentrations can accumulate in the urinary tract causing formation of cystine crystals and stones that can obstruct the urinary tract. Clinical signs include cystitis, hematuria, tranguria, urinary calculi and urinary stract obstruction.
Cystinuria Type II-A - Dogs with cystinuria are not able to reabsorb the amino acid cystine in their kidneys and therefore high concentrations can accumulate in the urinary tract causing formation of cystine crystals and stones that can obstruct the urinary tract. Clinical signs include cystitis, hematuria, stranguria, urinary calculi and urinary tract obstruction.
Fanconi Syndrome - A renal tubular dysfunction where the reabsorption capacity of proximal renal tubules of the kidney is impaired. This leads to excessive urinary loss of essential metabolites such as glucose, electrolytes, amino acids and proteins. Clinical signs of the disease include frequent drinking and urinating, weight loss and poor coat quality.
Hyperuricosuria (HUU) - Causes hyperuricemia and predisposes affected dogs to the development of urolithiasis (urate stones) in the kidneys and bladder.
Polycystic Kidney Disease in Bull Terriers (BTPKD) - Affected dogs develop bilateral kidney cysts and kidney failure.
Primary Hyperoxaluria (PH) - Metabolic kidney disorder that causes formation of calcium oxalate crystals. Other clinical symptoms are kidney stones and renal necrosis.
Protein Losing Nephropathy (PLN) - Affected dogs lose protein through their kidneys, resulting in protein excretion in their urine. Protein losing nephropathy has a complex background and several different genes and environmental factors can contribute to the onset of symptoms. The clinical signs include weight loss and fatigue. The condition is progressive, resulting in symptoms of kidney disease such as increased drinking (polydipsia), increased urination (polyuria), decrease appetite, anorexia, hypoalbuminemia, hypercholesterolemia, nausea, vomiting and diarrhea.
Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) - Canine kidney cancer syndrome characterized by bilateral multifocal tumors in the kidneys, collagen nodules in the skin, and uterine leiomyomas in females.
X-Linked Hereditary Nephropathy (XLHN) - Causes proteinuria. The severe form of the disease is encountered only in males. In some cases, female carriers can develop a renal disease with milder clinical signs. Symptoms include excessive drinking and frequent urination, diarrhea, vomiting, weight loss, reduced growth and renal failure.
Xanthinuria Type 1a - Leads to excessive xanthine in the urine. Excessive xanthine can accumulate in the urinary tract causing formation of xanthine stones that can obstruct the urinary tract or kidneys. Symptoms include difficulties when passing urine, pain when passing urine, inflammation in bladder, hematuria and kidney failure.
Xanthinuria Type 2a - Leads to excessive xanthine in the urine. Excessive xanthine can accumulate in the urinary tract causing formation of xanthine stones that can obstruct the urinary tract or kidneys. Symptoms include difficulties when passing urine, pain when passing urine, inflammation in bladder, hematuria and kidney failure.
Xanthinuria Type 2b - Leads to excessive xanthine in the urine. Excessive xanthine can accumulate in the urinary tract causing formation of xanthine stones that can obstruct the urinary tract or kidneys. Symptoms include difficulties when passing urine, pain when passing urine, inflammation in bladder, hematuria and kidney failure.
Chondrodysplasia - Caused by abnormalities in cartilage growth and ossification, which manifest as disproportionate dwarfism of the limbs.
Cleft Palate; Cleft Lip and Palate with Syndactyly - Abnormal hole in the roof (palate) of the mouth which results in an opening between the nasal passages and the oral cavity through which milk passes when an affected puppy is nursing. Clinical signs are cleft in the roof of the mouth and food matter noted in the nasal passages, cleft lip and joined digits.
Cleft Palate - Abnormal hole in the roof (palate) of the mouth which results in an opening between the nasal passages and the oral cavity through which milk passes when an affected puppy is nursing.
Craniomandibular Osteopathy (CMO) - Disorder of skull and jaw bones characterized by swelling and thickening of the jaw, difficulties in chewing, pain and recurrent fever.
Hereditary Vitamin D-Resistant Rickets (HVDRR) - Characterized by defects in the vitamin D receptors of the end-organs. Bone mineralization is inhibited in HVDRR causing softening and bending of the bones and skeletal malformations. The clinical signs of HVDRR include limb deformities and joint pain. Symptoms include hypocalcemia, secondary hyperparathyroidism, hypomineralization of bones, bone malformations, rickets, joint pain, lameness, limb deformities, spontaneous fractures and alopecia.
Osteochondrodysplasia - Disorders of bone and cartilage development characterized by stunted growth, misshapen limbs, abducted hind limbs, enlarged joints, flattened rib cage, shortened and bent long bones, deformed paws, underbite and abnormal movement.
Osteochondromatosis - Characterized by the formation of benign bone tumors called osteochondromas. Osteochondromas develop either in the metaphyses of the long bones or in the flat bones of the skeleton during puppyhood. Symptoms include lameness and ataxia.
Osteogenesis Imperfecta (OI) - Characterized by defective collagen resulting in fragile bones and loose joints. Signs include bones that break easily, weak teeth, dentinogenesis imperfecta and hyperlaxity.
Skeletal Disease (Hypophosphatasia) - Defined as a metabolic bone disease that disturbs skeletal mineralization. Symptoms include failure to grow, seizures and walking difficulties.
Skeletal Dysplasia 2 (SD2) - Abnormality of skeletal development that causes mild disproportionate dwarfism or short-leggedness.
Spondylocostal Dysostosis - Leads to stillbirth or death soon after birth. The disorder is characterized by shortened body length and reduced hindquarters. Affected dogs may have also other developmental anomalies in association with skeletal anomalies.
Van den Ende-Gupta Syndrome (VDEGS) - Causes multiple skeletal defects with the most common being severe patellar luxation, severe underbite and other skeletal defects.