Genetic Diseases

Most genetic diseases are caused by mutations in the DNA. When two dogs that carry a mutated gene reproduce, their offspring are likely to be affected by the disease if they inherit two copies of the mutated gene. Unfortunately, some genetic defect diseases have developed from the selective breeding and inbreeding of dogs.

The resulting puppies can be Affected, Carriers or Clear of the disease, if tested. If both the puppies’ parents are tested, the puppies can be classified as Hereditary Clear, Hereditary Carrier, Hereditary Affected

The types of diseases tested for are:

• Blood
• Cardiac
• Dwarfism
• Eye Conditions
• Hereditary
• Immune
• Kidney
• Lysosomes Storage
• Muscular
• Nervous System
• Neurological
• Skeletal
• Skin

Blood Disorders

Glanzmann’s Thrombastenia (GT):

• GT is a bleeding disorder caused by a dysfunction in blood clotting. There are three types: type 1, type 2 and variant GT. Type 1 is the most severe, variant GT being relatively normal but with reduced function in clotting. Symptoms include prolonged bleeding, severe bruising, red or purple spots under the skin, nose bleeds, bleeding gums, and pin-prick blood spots on the abdomen. This is present from birth, and affected dogs tend to be smaller than the breed average.
• Affected Breeds: Otterhound, Pyrenean Mountain Dog

Factor VII deficiency (FVIID)

• This is a disorder that affects blood clotting. Due to the lack of Factor VII, dogs affected with this will have prolonged bleeding after surgery or trauma. Clinical signs won’t be evident until a dog has had surgery or an accident, where the prolonged bleeding can be noticed.
• Affected Breeds: Airedale Terrier, Alaskan Klee Kai, American Foxhound, Beagle, Papillion, Deerhound, Finnish Hound, German Wirehaired Pointer, Giant Schnauzer, Irish Water Spaniel, Japanese Spitz, Miniature Schnauzer, Sealyham Terrier, Welsh Springer Spaniel

Haemophilia A (factor VIII deficiency / F8)

• Factor VIII deficiency is a type of blood clotting disorder, where affected dogs will bleed spontaneously into their chest, abdomen or joints. They will also develop significant bruising and profuse bleeding after a trauma or surgery. As this condition is sex-linked it means male dogs present this disorder if they have one mutated X-chromosome; the mutation usually comes from the mother. In most examples, the females carry one mutated X chromosome without being affected. Females only are affected when they carry two mutations, coming from both parents. This disorder is usually diagnosed in puppies or young adult dogs, but can be diagnosed at any age. Puppies may have abnormal bleeding while teething. Other signs are extensive bruising or bleeding after trauma. Where spontaneous bleeding occurs, you may notice swollen joints, difficulty breathing or a drooping abdomen.
• Affected Breeds: German Shepherd Dog, White Swiss Shepherd Dog

Haemophilia B (Factor IX deficiency)

• This blood clotting disorder results in a lack of protein factor IX. With the lack of this protein, the blood has problems coagulating leading to prolonged bleeding after trauma or surgery, female dogs may also experience issues after whelping. The condition is sex-linked which means male dogs present this disorder if they have one mutated X-chromosome; the mutation usually comes from the mother. In most examples, the females carry one mutated X chromosome without being affected. Females only are affected when they carry two mutations, coming from both parents.
• Affected Breeds: Afghan Hound, Airedale Terrier, Bull Terrier, Cairn Terrier, German Wirehaired Pointer, Lhasa Apso, Rhodesian Ridgeback

Cardiac Disease

Rhodesian Ridgeback Inherited Ventricular Arrhythmia (IVA)

• This is a condition that results in abnormalities in the cardiac electrical system which develops the heartbeat. It results in abnormal heartbeats which can result in sudden death. It appears the most severe part of the disease is present between 6 and 30 months of age and many dogs appear to outgrow the problem. The testing will determine if your dog is at risk of this condition. Dogs that present with the gene mutation should have a heart monitor test done routinely between 6 and 30 months to monitor the condition.
• Affected Breeds: Rhodesian Ridgeback

Dilated cardiomyopathy (DCM)

• DCM is a condition of the heart which causes swelling of the lower heart chambers (ventricles). This restricts the heart’s ability to pump blood and leads the heart to become large and beat weakly. Signs can include collapsing, appetite loss, lethargy, abdominal swelling, cough or gasping for breath. The signs may not show for years but will be obvious eventually.
• Affected Breeds: Giant Schnauzer, Schauzer, Doberman, Estrela Mountain Dog, Great Dane

Juvenile Dilated Cardiomyopathy (JDCM)

• JDCM is a heart disease that affects young dogs. Affected dogs often appear healthy with no signs of heart disease but will unexpectedly pass. The only physical signs that may occur are affected young males may have undescended testicles (one or both). For many of the affected puppies, their passing can occur after having surgery, being under general anaesthesia, or exercising.
• Affected Breeds: English Toy Black and Tan Terrier, Manchester Terrier, Portuguese Water Dog.

Dwarfism

Chondrodysplasia (CDSL)

• CDSL is a type of dwarfism that affects the way bones develop. It results in the dog’s limbs being noticeably shorter. Other symptoms may be bowed forearms, irregular toes and problems with the hip joint.
• Affected breeds: Norwegian Elkhound

Skeletal Dysplasia 2 (SD2)

• SD2 is a type of dwarfism that causes long bones to stop growing before they are fully developed. It results in shortened limbs, with the front limbs being more affected. This type of dwarfism doesn’t’ affect the torso’s length or depth. Shortened stature is the only clinical sign of this condition.
• Affected Breeds: Australian Labradoodle, Labrador Retriever

Eye Conditions

PRA

PRA occurs when retinal cells that receive light and translate it into vision degenerate and die. This condition affects both rods and cones, leading to night blindness and eventually complete blindness. The onset varies by breed, typically becoming noticeable from around 3 years of age. PRA results from various genetic mutations found in different breeds.

There are three main forms of PRA:

• Generalised PRA affects the entire retina.
• Retinal pigment epithelial dystrophy affects the outer retina layer.
• Sudden acquired retinal degeneration syndrome (SARDS) causes sudden, irreversible blindness

Primary Lens Luxation (PLL)

• PLL affects the zonular fibres which support the lens in the eye, when these break down or disintegrate the lens moves into the wrong position within the eye. If the lens goes into the anterior chamber of the eye, it will quickly result in glaucoma and loss of vision. This condition is well-known in various breeds and is painful and blinding. Signs of PLL include redding of the eye, glaucoma and loss of vision. It can be detectable at 20 months of age, but complete lens luxation usually occurs at 3-8 years old.
• Affected Breeds: Chinese Crested Dog, Jack Russell Terrier, Lancashire Heeler, Miniature Bull Terrier, Parson Russell Terrier, Sealyham Terrier, Tibetan Terrier, Welsh Terrier, Hungarian Pumi, Italian Greyhound, Portuguese Podengo, Smooth Fox Terrier, Wire Fox Terrier, Pug

Canine Multi-Focal Retinopathy

• CMR is a condition that affects the retina, changes can be noticed around 4 months of age. Small light-coloured lesions appear on the retina where it is detaching. The changes in the eye are slow and often stop by one year old. The condition doesn’t lead to blindness. In some cases, the lesions appear to heal as the dog ages, but vision loss is often reported. It is diagnosed through an eye examination. There are two types CMR1 and CMR2.
• CMR1 Affected Breeds: English Mastiffs, Bullmastiffs, Great Pyrenees, Australian Shepherds, Miniature American Shepherds, Boerboel, American Bulldogs, Bulldogs, French Bulldog, Cane Corso, Dogue de Bordeaux
• CMR2 Coton De Tulear, English Mastiffs, Bullmastiffs, Great Pyrenees

Microphthalmia (RBP4)

• This disease affects the soft-coated wheaten terrier, where affected puppies are born with particularly small eyes and bodily defects. The result is the dogs have incurable blindness. The affected gene is the RBP4 gene which causes a vitamin A deficiency during pregnancy meaning the mother’s vitamin A did not reach the puppies. Puppies with two copies of the gene will only be affected if the mother has two copies of the RBP4 gene. If the mother only has one copy (a carrier) puppies that end up with two copies of the gene are unlikely to develop the gene.
• Affected Breeds: Soft-Coated Wheaten Terrier.

Collie eye anomaly/Choroidal hypoplasia (CEA/CH)

• CEA/CH is the abnormal development of the choroid (a layer of tissue under the retina). This can be diagnosed early as it doesn’t develop properly at the start of the dog’s life. The presentation of the condition varies greatly between dog breeds. Most affected dogs only suffer a mild form of the condition; however, the disease can only be diagnosed through an eye examination. In mild cases the dog’s vision is normal throughout its life, unfortunately, any offspring from a mildly affected dog can be seriously affected by this condition which can result in vision loss.
• Affected breeds: Border Collie, Lancashire Heeler, Nova Scotia Duck Tolling retriever, Rough Collie, Shetland sheepdog, smooth collie, Australian shepherd, bearded collie, Miniature American shepherd.

Hereditary

Muco-polysaccharidosis type IIIB (MPSIIIB)

• This condition effects the bodies’ ability to break down large sugar molecules, when there is build-up of this it can lead to cell function disruption. Particularly affecting the brains’ function. Signs show when the dog is 2-4 years old and affects the cerebellum (part of the brain that controls movement), the symptoms including tremors, difficulty balancing, walking and struggling on or around obstacles such as stairs.
• Affected Breeds: Schipperke

Imerslun-Gräsbeck syndrome/cobalamin malabsorption (IGS)

• This condition results in vitamin B12 not being properly absorbed in the small intestine. B12 is vital for normal cell growth and works in conjunction with iron and folic acid to ensure the nervous system functions properly. It usually appears early in a dog’s life, presenting with a loss of appetite and lack of energy. Puppies with the disorder will struggle to grow normally. Affected dogs can also develop anaemia (reduced numbers of red blood cells), which will cause puppies to become weak and less able to exercise.
• Affected Dogs: Beagle, Border Collie, Australian Shepherd, Miniature American Shepherd.

Multidrug Resistance gene 1 (MDR1)

• This inherited condition causes affected dogs to be sensitive to certain drugs such as ivermectin (an anti-parasitic) and loperamide (an opioid used to treat diarrhoea). In unaffected dogs, the blood-brain barrier protects brain cells from various drugs and toxins. There is a protein called P-glycoprotein that pumps drugs and toxins from the cerebrospinal fluid (the fluid that circulates around the brain and spine) back into the blood circulation. The MDR1 mutation results in this protein being inactive, which allows drugs and toxins to remain within the cerebrospinal fluid and potentially suppress brain activity. Dogs affected by this mutation that are exposed to these drugs may require extended veterinary care and, in severe cases, may face fatal outcomes.
• Affected Dogs: Australian Shepherd, Miniature American Shepherd, Border Collie, Rough collie, Shetland sheepdog, Smooth Collie, White Swiss Shepherd

Primary Cillary Dyskinesia (PCD)

• PCD is like cystic fibrosis in humans. It’s the interference of clearing mucus from the airways which causes chronic inflammation in the nasal cavities, windpipes and lower airways. It causes regular infections for the dog due to the obstruction of fluid moving through the airways. This disorder also renders male dogs sterile as it causes sperm to be immobile. The condition presents with sneezing, nasal discharge, coughing and chronic bronchitis from the upper and lower respiratory infections. Other effects can be hydrocephalus (increase of fluid around the brain) and the infertility in males.
• Affected Breeds: Old English Sheepdog.

Cleft Lip/Palate and Syndactyly (CLPS)

• A cleft palate is an opening in the room of the mouth where there two sides of the roof of the mouth failed to come together during embryonic development. It leaves an opening between the mouth and the nasal cavities. Symptoms that result from it are a runny nose, coughing, aspiration pneumonia, respiratory difficulty, difficulty nursing (for puppies), slow growth, weight loss, lack of appetite. Cleft palates can be inherited or have environmental effects such as vitamin deficiencies when in the embryonic stage. This disorder only affects a minority of the Toller population.
• Affected Breeds: Nova Scotia Duck Tolling Retriever

Lafora’s Disease

• Lafora’s disease is a form of epilepsy that develops from a faulty enzyme. The enzyme should break down carbohydrates, but in affected dogs, a toxic starch material builds up in the cells, particularly nervous, liver and muscle tissues. This results in the dog rapid shuddering or jerking, which can be caused by loud noise, flickering lights or sudden movements. Dogs typically show signs around 5-7 years of age, and it progresses over time. Other neurological problems tend to develop, such as loss of control of movement, blindness, and dementia.
• Affected Breeds: Miniature Wire-Haired Dachshund, Basset Hound, Beagle, Chihuahua

Laryngeal Paralysis

• LP is a breathing disorder usually found in Bull Terriers. It presents with difficulty breathing, especially when exercising. In severe cases, it can cause suffocation, leading to death. Larynx Paralysis may require surgery to relieve any breathing problems. Affected dogs may be less interested in exercising, have a high-pitched, noisy breathing sound, vocal impairments, difficulty breathing and collapsing. For Bull Terriers and Miniature Bull Terriers, a genetic variant has been found as a risk factor for early-onset LP. Dogs with two copies of the gene are 23 times more likely to develop the disorder. Therefore, any dog that carries one copy of the gene should only be bred to dogs clear of the condition to avoid producing affected puppies.
• Affected Breeds: Bull Terrier, Miniature Bull Terrier.

Dental hypomineralisation / Raine’s Syndrome (Raine’s synd)

• This condition is where a dog’s teeth experience excessive wear, resulting in tooth extraction. The affected teeth have a light brown discolouration in the enamel and appear dull, worn and cracked. Signs are usually noticed after the dog has all its permanent teeth. This condition is considered rare.
• Affected Breeds: Border Collie

Pyruvate Dehydrogenase phosphates (PDP-1)

• PDP1 is a metabolic disorder. The enzyme pyruvate dehydrogenase phosphatase 1 (PDP1) is essential for cell metabolization – converting food to energy for cells. It presents with exercise intolerance and post exercise collapse as well as possible neurological signs.
• Affected Breeds: Clumber Spaniel, Sussex Spaniel

Copper toxicosis (COMMD1)

• CT leads to the build-up of dietary copper in the liver, causing illness and death. The disease doesn’t show any symptoms in the early stages. Clinical signs are usually related to the liver, such as weight loss, anorexia, depression, vomiting, weakness, lethargy and dehydration. As the disorder progresses, symptoms can include bruising and blood in the stool. Without treatment, the dog will develop liver disease and die, usually between 3-7 years of age. CT is caused by the COMMD1 gene, whilst the mutation is a definite cause of the disease, there’s a belief that there are other genetic causes that aren’t yet identified.
• Affected Breeds: Bedlington Terrier.

Musladin-Lueke Syndrome (MLS)

• MLS affects the development and structure of the connective tissue. This affects multiple organs and structures, including the bones, heart, skin and muscle.  The disease is defined by short toes on the front feet (sometimes all four feet), high-set creased ears on a flat skull with extra cartilage in them, slant, narrow eyes and very thick, tight skin with little scruff. Affected puppies are small in size with a stiff gait. Not all affected puppies will show these signs. The effect of the short outer toes means the dogs walk like ballerinas on their middle toes. They have a very good social temperament, although they have been reported to develop seizures. Some dogs can live normal lifespans as the condition stabilises as they mature, but they will remain small. Often, they die young as a result of problems associated with the disease. This disease is unique to Beagles.
• Affected Breeds: Beagle.

Immune

Shar-Pei Autoinflammatory Disorder

• This condition relates to the spectrum of signs triggered by systemic and persistent inflammation in Shar Peis. All the autoinflammatory signs in SPAID are related to elevated levels of hyaluronan. Hyaluronan is a molecule which acts as a trigger signal for the inflammatory response. Affected dogs that are given IL-1 inhibitors will feel relief from the disease, which indicates the disorder is a cytokine-driven inflammation and lack of regulation of the innate immune response. SPAID is also shown to present LMW-HA (low molecular weight hyaluronan), which is related to breeding for the wrinkled skin in this breed. There are two tests for SPAID, one for the CNV variant and the other for the MTBP Variant.
• Affected Breeds: Shar Pei

Severe Combined Immunodeficiency (SCID)

• SCID is an immunodeficiency where the dog cannot produce working B-lymphocytes (the cells responsible for producing antibodies and memory of infections) or T-lymphocytes (which destroy infected cells and direct immune cells). This leaves the dog with a lack of immune system, making them susceptible to infection. Signs usually present by 7-8 weeks of age and symptoms include failure to thrive, lethargy, poor growth, weight loss, seizures, diarrhoea, vomiting, lack of muscle control, loss of sight and Lymph nodes that can’t be felt. This disease means these dogs are very short-lived and usually pass away by 4 months old.
• Affected Breeds: Wetterhoun (Frisian Water Dog), Jack Russell Terrier, Parson Russell Terrier

Trapped neutrophil syndrome (TNS)

• TNS results in where the bone marrow is unable to effectively release neutrophils (a type of white blood cell) into the bloodstream. Affected puppies will have an impaired immune system and will die from being unable to fight infection. It’s a disease that quite often goes undiagnosed for several reasons. As it’s an autoimmune deficiency, symptoms can range widely depending on the type of infection the puppy picks up, hence many cases being undiagnosed. Most puppies become ill before leaving the breeder, but some may not have signs til later. But many puppies are put to sleep by 4 months of age.
• Affected Breeds: Border Collie

Mycobacterium Avian Complex (MAC)

• MAC is a defective condition of the immune system which can lead to an infection that affects the whole of the dog’s body. It’s considered a serious and lethal disease. As a zoonotic disease, it can be transmitted from animals to humans and vice versa. Signs present at lethargy, lack of appetite, weight loss, weakness, diarrhoea, conjunctivitis and nasal discharge. The disease goes on to affect the lymph node, spleen and liver.
• Affected Breeds: Miniature Schnauzer

Kidney Disease

Polycystic Kidney Disease (PKD)

• PKD is a slow progressing, irreversible kidney disease. It’s defined by the growth of cysts in the kidneys (usually in the functional areas). With the cyst growing and replacing the kidney tissue, the kidney’s ability to function decreases, ending in chronic renal kidney failure. This usually happens in middle-aged to old age dogs. This disease affects both kidneys and signs don’t appear in the early stages of the disease, but as the disease progresses. Symptoms are excessive water drinking, loss of appetite, frequent urination, weight loss, sporadic vomiting and depression.
• Affected Breeds: Bull Terrier, Miniature Bull Terrier.

Cystinuria (CU)

• CU is a disorder of the kidneys. In an unaffected dog, cystine is filtered in the kidney and then reabsorbed in the tubules, resulting in little cystine in the dog’s urine. Meanwhile affected dogs, the cystine is not reabsorbed properly in the kidney tubules (along with other amino acids), resulting in high levels of cystine in the dog’s urine. As cystine is insoluble (doesn’t dissolve) in neutral pH or acidic urine, it leads to excessive cystine in the urine, resulting in crystals forming in the kidney and or bladder. Affected dogs will repeatedly suffer from urinary tract infections and are at risk of urinary blockage. This left untreated promptly can lead to kidney failure, bladder rupture and even death. The average age dogs start showing signs is 4.8 years, but in Newfoundland’s it can start as early as 6 months to a year old, as the breed suffers from a more severe form of the condition.
• Affected Breeds: Australian Cobberdog, Australian Labradoodle, Labrador Retriever, Landseer, Newfoundland.

Fanconi Syndrome

• This is a condition where the proximal renal tubules of the kidneys don’t properly absorb electrolytes and nutrients back into the body. Symptoms include excessive water drinking, excessive urine volume, and glucose in the urine. Left untreated, the dog’s condition will worsen. Dogs are usually affected between 4 and 8 years of age. As it has a later onset, it’s often passed onto offspring as it wasn’t know the parent was affected.
• Affected Breeds: Basenji

Lysosomes Disease

Saluki Neuronal ceroid lipofuscinosis (SAL-NCL)

• NCL is a lysosomal storage disease. Lysosomes are structures within cells that control the breakdown and recycling of cellular material, and they produce enzymes that are a part of the recycling process. The mutation affects the efficiency of the process and causes the build-up of intermediate levels that can be toxic to cells, especially nerve cells. This leads to progressive neurodegeneration (degeneration of the brain and eye cells) and results in severe neurological impairment and early death. Affected dogs present as normal at birth but begin to decline from 1-2 years old, but the age and severity of the condition can vary greatly between dogs. It presents with progressive motor decline (seizures and uncoordinated muscle movements), cognitive decline (loss in memory, attention and learning) and abnormal behaviour. Visual impairments may present as well.
• Affected Breeds: Saluki

Lysosomal storage disease (LSD)

• LSD is a metabolic disorder that results in the dysfunction of the lysosomes, which control the recycling of unwanted material in the body into useful material. When lysosomes are faulty, the build-up of unwanted material results in a lack of cell function. Signs in the dog are staggering, uncoordinated gait, involuntary eye movements, and behaviour changes such as aggression. Signs can begin from 3 or 4 months of age to 4 years or more. It’s a progressive condition.
• Affected Breeds: Lagotto Romagnolo

Nervous System

Neuroaxonal dystrophy (NAD)

• NAD is a condition that affects the nervous system and gets worse with age. It can present from 6 months old. The affected dogs may walk unusually, be dull or nervous, be very vocal and not have control of when they go to the toilet. Other symptoms are problems with sight and muscle loss. Due to the seriousness of the condition, dogs are often put to sleep within a year of being diagnosed. This disease only affects dogs with two copies of the abnormal gene.
• Affected Breeds: Papillon, Spanish Water Dog, Rottweiler

L2-hydroxyglutaric aciduria (L2-HGA)

• This is a neurometabolic disorder, a metabolic disorder affecting the nervous system. It presents with elevated levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. Typically, signs present at 6 months to a year old, although they can start later. Signs are epileptic seizures, unstable gait, tremors and muscle stiffness after exercise or excitement.
• Affected Breeds: Staffordshire Bull Terrier, Yorkshire Terrier.

Juvenile laryngeal paralysis & Polyneuropathy (JLPP)

• JLPP is a disease of the nervous system where the nerves deteriorate. The nerve that controls the larynx (voice box) muscles is usually affected first. This leads to muscle weakness and air flow obstruction to the lungs after exercise or when the dog is hot. Signs include noisy breathing, choking and regurgitation of food and water. Some dogs suffer from a wobbly gait due to leg muscles being affected, they can also have eye development abnormalities. Signs are usually noticed at a few weeks of age.
• Affected Breeds: Rottweiler, Russian Black Terrier, Alaskan Husky

Fucosidosis (Fuco)

• Canine Fucosidosis is a severe, progressive disorder that affects the nervous system. It progresses over a few months, sometimes from an early age. In affected dogs, the enzyme alpha-L-fucosidase is absent, one of the enzymes required to help break complex compounds into simple molecules. This causes the pathway to get blocked, and toxic compounds build up in the dog’s cells. The cells in the nervous system are sensitive to these toxins. The disease is progressive and ultimately fatal. It affects dogs between 18 months and 4 years. Signs include incoordination and loss of movement, change in temperament and loss of learned behaviour, balance, deafness and visual impairment, as well as varying levels of depression.
• Affect Breeds: English Springer Spaniel

Neurological

Pug Dog Encephalitis (PDE)

• This is an inflammatory brain disease that is progressive and fatal. Signs include seizures, incorrect walking, and blindness. To be at risk, a dog requires two copies of the DE gene mutation. The disease is thought to have both environmental and genetic factors. With the external factors, the genetic test evaluates the dog’s risk of getting the disease. Current research shows 12.5% of dogs with two copies of the PDE gene develop the disorder.
• Affected Breeds: Pug

Neonatal encephalopathy with seizures (NE/NEWS)

• NEWS is a recessive developmental brain disease that affects puppies. The puppies are born small, don’t develop normally and will struggle to nurse. The nursing will improve after a few days, but by 3 weeks old, they will present with weakness, poor movement, whole body tremors and have a wide stance with weak muscles. The affected puppies will have delayed reactions to stimulants and not interact with mum and littermates as expected. By 4-6 weeks of age, the puppy will be suffering from generalised seizures. By 7 weeks, affected puppies are usually euthanised or have passed away.
• Breeds Affected: Miniature Poodle, Standard Poodle, Toy Poodle, Australian Labradoodle, Berndoodle, cockapoo, goldendoodle

Degenerative Encephalopathy

• DE is a neurological condition that results in the degeneration of the part of the brain responsible for movement and some areas of the dog’s behaviour. It presents as loss of coordination (problems running, jumping, or swimming), anxious and aggressive behaviours, excessive food drive and odd tail position. The symptoms progress with age, and due to quality of life, many dogs are put to sleep by 3 to 5 years of age.
• Affected Breeds: Nova Scotia Duck Tolling Retriever

Episodic falling (EF)

• This is a neurological condition triggered by excitement or frustration, where muscles are engaged. The dog’s muscles become locked, and the dog is unable to relax its muscles, resulting in it falling over. Dogs usually present signs of this before 1 year old, with most cases starting from 4 to 7 months. This condition can be confused with epilepsy.
• Affected Breeds: Cavalier King Charles Spaniel

Linkage test – Cerebellar ataxia (CA)

• CA is a neurological disease that affects a dog’s gait, coordination and balance. The cerebellum is the part of the brain that controls and regulates movement. With this condition, the cells in the cerebellum deteriorate, resulting in coordination and balance problems. It presents in the few weeks or months of a dog’s life and is progressive, due to quality-of-life concerns, affected dogs are usually put to sleep before the age of one.
• Testing for this disorder is done through linkage tests, unlike DNA tests that look for specific mutations found to cause a disease. Linkage tests look for parts of unrelated DNA that are almost always inherited with the genetic mutation that causes CA.
• Affected Breeds: Italian Spinone, Gordon Setter, Finnish Hound.

Greyhound neuropathy (GN)

• GN is a neurological condition that appears in Greyhounds. It’s caused by the NDRG1 gene, where the protein produced by the gene is found in the fluid in the cells. It’s involved in the stress and hormone responses, cell growth and cell differentiation. The gene mutation also has a link to nerve dysfunction. Symptoms include muscle weakness, uninterested in exercise, and hopping when walking. It usually presents around 3 to 9 months old and progresses rapidly in the first year.
• Affected Breeds: Greyhound

Skeletal Conditions

Degenerative myelopathy (DM)*

• DM results from the deterioration of the spinal cord structures responsible for transmitting nerve impulses. Damage can occur in any part of the spinal cord, but it is most severe in the lower back. The disease typically starts around 7 years old with a loss of coordination in the back legs and progresses to paralysis.
• It is an autosomal-recessive condition, so dogs with two copies of the gene are at increased risk. The disease is not fully understood, and environmental or other genetic factors may also contribute to its development. Thus, dogs with or without the gene can be affected differently.
• Affected breeds: Canadian Eskimo Dog, Pembroke Welsh Corgi, Australian Shepherd, Borzoi, Chesapeake Bay Retriever, German Shepherd Dog, Hungarian Pumi, Mastiff, Miniature American Shepherd, Miniature Poodle, Nova Scotia Duck Tolling Retriever, Pyrenean Mastiff, Rough Collie, Toy Poodle, White Swiss Shepherd Dog, Cocker Spaniel, Rhodesian Ridgeback, Rottweiler, Smooth Collie, Standard Poodle

Chondrodystrophy (CDDY with IVDD Risk)

• CDDY with IVDD is defined by dogs with shortened bones, and premature degeneration and calcification (hardening) of the spinal discs. CDDY is caused by a mutation in the FGF4-12 gene. As this is a semi-dominant trait, it means dogs with 2 copies of the genes are smaller than dogs with one copy. This does mean dogs with one or two copies are predisposed to developing IVDD. This test also checks for Chondrodysplasia (CDPA) which is caused by the FGF4-18 gene, which causes the short leg trait in many breeds.
• CDDY Affected Breeds: Basset Hound, Beagle, Bichon Frise, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, American Cocker Spaniel, Coton de Tulear, Dachshund, Dandie Dinmont Terrier, English Springer Spaniel, French Bulldog, Havanese, Jack Russell Terrier, Nova Scotia Duck Tolling Retriever, Pekingese, Pembroke Welsh Corgi, Poodle (Miniature and Toy), Portuguese Water Dog, Scottish Terrier, Shih Tzu.
• CDPA Affected Breeds: Basset Hound, Pembroke Welsh Corgi, Dachshunds, West Highland White Terriers and Scottish Terriers.
• CDDY with IVDD Affected Breeds: Coton De Tulear, Nova Scotia Duck Tolling Retriever.

Spinocerebellar ataxia (SCA)

• SCA is the degeneration in the spinal cord, specifically in the areas that carry information to the brain. Due to life quality most dogs diagnosed with this are put to sleep. Signs present as early as 2 to 6 months of age and are usually coordination related such as pelvic limb (back legs) swaying when walking, difficulty jumping and climbing stairs, frequent falling from balancing issues and trouble getting up. SCA is related to a mutation in the CAPN1 gene and can occur from an autosomal recessive mutation.
• Affected Breeds: Jack Russel Terrier, Parson Russel Terrier

Craniomandibular Osteopathy (CMO)

• CMO (also called Lion Jaw) is a bone disease that causes developmental changes in the skull and jaw bones. This presents as hard swelling and thickening on the jaw, so much so that the jaw cannot open properly. The dog will experience drooling, severe pain, tenderness and difficulty eating. Symptoms can be managed, but the inability to eat could cause malnutrition. Signs typically start between 4-8 months of age.
• Affected Breeds: West Highland White Terrier, Scottish Terrier, Cairn Terrier

Centronuclear myopathy (CNM)

• CNM causes muscle weakness from a deficiency in muscle fibres. Signs included reduced muscle tone, muscle weakness, abnormal posture, stiffness, hopping when walking, exercise intolerance, and collapsing when exposed to cold.
• In Labrador Retrievers, signs of weakness are present by 5 months old. Worldwide, 10-16% of labradors are estimated to be carriers or affected.
• Affected Breeds: Australian Labradoodle, Labrador Retriever

Hereditary necrotising myelopathy (ENM)

• ENM is a spinal degenerative disease where the white matter in the spinal cord degrades in the neck region. This affects the dog’s motor functions of the back leg muscles. It presents with hind limb paralysis, the dog is unable to place their feet, scuffed toes, excessively worn nails, shuffling and loss of coordination. This progresses to the dog being unable to walk within a few weeks of onset. Early signs start between 3 and 12 months of age. Unfortunately, this is a fatal disorder.
• Affected Breeds: Kooikerhondje

Skin Conditions

Sebaceous Adenitis (SA)

• This is a dermatological condition that is most commonly found in Standard Poodles, where the Sebaceous glands in the skin becomes inflamed and then destroyed. This leads to hair loss and secondary skin infections. It also presents with silvery dandruff stuck to the coat, and the dog may not like being groomed, especially around its tail and feet.
• Breeds Affected: Standard Poodle

Lethal Acrodermatitis

• LAD is a serious skin disorder where puppies develop skin lesions and have poor growth (failure to thrive). The lesions develop as redness on the skin and strongly suck scales (dry skin), predominately on their feet, elbows, hocks and muzzle. Callous or rough patches will also occur on the foot pads. Dogs affected by LAD are also immunodeficient, so they will suffer from skin infections such as Malassezia or Candida. Unfortunately, affected puppies are usually put to sleep as the condition is severe, reduces their lifespan and is very painful.
• Affected Breeds: Bull Terrier, Miniature Bull Terrier

Ichthyosis (ICT-A)

• ICT-A is a type of dermatitis (skin disease) its caused by the skin cells not functioning properly. It leads to large scales on the skin; there is no treatment for the disease, but it does decrease in some older dogs. It can be seen soon after birth and presents as large dandruff on the dog’s back and belly.
• Affected Breeds: Golden Retriever, Golden Doodle.

Curly coat/dry eye (CC/DE)

• CC/DE is a condition affecting the dogs skin and eyes where the dog is unable to produce tears due to the lack of watery discharge from the lacrimal glands. This makes their eyes very sore, resulting in dry and flaky skin. This also affected their feet, which makes walking and standing difficult and painful.
• The curly coat is noticeable from birth as the puppy’s coat is unusually curly and dry; they will also have oily fur and skin deterioration and inflammation. Signs of dry eyes are the dog rubbing their eyes, squinting and being sensitive to light. The eyes may be inflamed and red, or the cornea may appear dry and dull; there is commonly thick discharge in or around the eye.
• Affected Breeds: Cavalier King Charles Spaniel.

Hereditary nasal parakeratosis (HNPK)

• HNPK causes the dog’s nose to dry out, resulting in inflammation and continuous irritation of the skin on the nose. It presents with a dry, rough nose, which over time changes to a lighter colour. Brown crusts may also develop on the edge of the nose. Signs present from 6-12 months of age.
• Affected Breeds: Australian Cobberdog, Australian Labradoodle, Labrador Retriever

Hereditary footpad hyperkeratosis (HFH)

• HFH, also known as corny feet, is where the dog’s footpads become thick and hard. The result is cracks and crevices forming, which are painful for the dog and can lead to infections. Affected dogs will have fast-growing nails which become deformed and crumbly.
• Affected Breeds: Irish Terrier, Bedlington Terrier