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Common Genetic Diseases in Dog Breeds

Glenn Broadbent • December 21, 2023

Common Genetic Diseases in Dogs


6 Dogs

The genetics of dogs is a complex and fascinating field.

While selective breeding has led to the diverse range of breeds we see today, it has also predisposed certain breeds to specific genetic diseases.

This article explores some of the most common genetic diseases found in various dog breeds, emphasising the importance of awareness and responsible breeding.

Hip Dysplasia

Hip dysplasia is a condition that primarily affects the hip joint, which is a ball-and-socket joint.

In a healthy joint, the ball at the top of the thigh bone (femur) fits snugly into the socket in the pelvis, allowing for smooth movement.

However, in dogs with hip dysplasia, this joint doesn't develop properly, resulting in a loose fit and abnormal movement within the joint.

Over time, this improper fit can lead to various degrees of arthritis, discomfort, and decreased mobility.

Causes and Risk Factors

The primary cause of hip dysplasia is genetic.

Dogs inherit the condition from their parents, making it more prevalent in certain breeds, especially larger ones like German Shepherds, Labrador Retrievers, and Golden Retrievers. However, genetics isn't the sole factor; environmental and lifestyle influences also play crucial roles.

These include:

Symptoms

Symptoms of hip dysplasia can vary widely from one dog to another and may include:

Diagnosis

Veterinarians diagnose hip dysplasia through a combination of clinical signs, physical examination findings, and imaging techniques like X-rays. In some cases, advanced imaging methods such as CT scans or MRIs may be used for a more detailed assessment.

Treatment and Management

While there is no cure for hip dysplasia, there are various ways to manage the condition and improve the quality of life for affected dogs:

Prevention

Selective breeding practices are the most effective method of reducing the incidence of hip dysplasia. Breeders can have breeding dogs evaluated for hip dysplasia through schemes like the Orthopedic Foundation for Animals (OFA) certification. Choosing puppies from lines with good hip scores can decrease the risk of developing the condition.


Hip dysplasia is a complex condition influenced by genetics, lifestyle, and environmental factors. Through careful management, including diet, exercise, and medical care, dogs with hip dysplasia can lead full and comfortable lives.

Hip Dysplasia

Brachycephalic Syndrome

Brachycephalic breeds are popular for their distinctive appearance, characterised by broad, short skulls, flat faces, and short noses. This facial structure, while appealing to many, predisposes these breeds to a range of health issues collectively referred to as brachycephalic syndrome.

This condition is a direct result of the physical traits selectively bred into these dogs over generations. Bulldogs, Pugs, Boston Terriers, French Bulldogs, and Shih Tzus are among the breeds most commonly affected.

Key Components of Brachycephalic Syndrome

Brachycephalic syndrome encompasses several related health issues, primarily affecting the respiratory and digestive systems. These include:

Secondary Health Issues

The unique structure of brachycephalic breeds also leads to other health complications:

Management and Care

Owners of brachycephalic breeds need to be particularly vigilant in managing their pets' health to prevent complications associated with brachycephalic syndrome:

Ethical Breeding Practices

There is growing concern and debate around the breeding of brachycephalic dogs, with many advocating for responsible breeding practices that prioritize health over appearance. Ethical breeders may aim to select traits that reduce the severity of brachycephalic syndrome, such as longer noses and less pronounced facial folds. Veterinary associations and animal welfare organizations also recommend potential owners research and consider the health implications of these breeds before deciding to bring one into their home.


While brachycephalic breeds are beloved for their unique appearances and personalities, their physical characteristics come with inherent health challenges. Awareness, proactive health management, and responsible breeding practices are key to ensuring these dogs lead happier, healthier lives.

Progressive Retinal Atrophy (PRA)

Progressive Retinal Atrophy (PRA) is an umbrella term for a group of genetic disorders that affect the retina, leading to a progressive loss of vision and ultimately blindness in dogs.

This condition is inherited and is prevalent in several breeds, including but not limited to Cocker Spaniels, Labrador Retrievers, Poodles, and many others. PRA is particularly insidious because affected dogs may not show signs of vision loss until the disease is well advanced.

Understanding PRA

The retina is a thin layer of tissue at the back of the eye that is critical for capturing light and sending visual information to the brain. PRA involves the gradual degeneration of the photoreceptor cells in the retina. These cells are crucial for vision in low light (rods) and colour vision and detailed vision (cones). The disease typically affects both eyes simultaneously and, since it is progressive, symptoms will worsen over time.

Types of PRA

There are several types of PRA, which can vary based on the age of onset and the specific genetic mutations involved.

The most common forms include:

Symptoms

Early stages of PRA might not be noticeable, as dogs are adept at compensating for vision loss, especially when it occurs gradually. As the disease progresses, signs may include:

Diagnosis

Veterinarians can diagnose PRA through a combination of ophthalmic examinations, including direct and indirect ophthalmoscopy to visualise the retina. Genetic testing is also available for some breeds, which can identify the disease even before clinical signs appear. This is particularly valuable for breeders wishing to prevent the spread of the condition.

Management and Treatment

While there is no cure for PRA, early detection can play a significant role in managing the condition. Understanding that a dog will eventually lose their sight allows owners to prepare and adapt the dog’s environment for safety and comfort.

Management strategies include:

Research and Future Directions

Ongoing research into PRA is focused on understanding the genetic basis of the disease and developing gene therapy treatments. There have been promising developments in gene therapy for certain types of PRA in dogs, offering hope for future treatments that could slow or even halt the progression of this condition.

The Importance of Responsible Breeding

Given that PRA is a hereditary condition, responsible breeding practices are crucial to reduce its prevalence. Potential breeders are encouraged to have their dogs genetically tested for PRA and to use the results of these tests to inform their breeding decisions, avoiding breeding carriers or affected dogs to prevent passing the condition to offspring.


Progressive Retinal Atrophy is a significant concern for many dog breeds, leading to irreversible blindness. While there is no cure, understanding the condition, early detection, and careful management can significantly impact the quality of life for affected dogs. Advances in genetic research and potential future treatments offer hope for combating this challenging genetic disease.

The condition is commonly known as Von Willebrand's Disease (vWD), which is indeed analogous to hemophilia in humans.

It is the most prevalent inherited blood clotting disorder in dogs, affecting various breeds with notable frequency in Doberman Pinschers, Scottish Terriers, and Shetland Sheepdogs. This genetic disorder is characterised by a deficiency or malfunction of von Willebrand factor (vWF), a crucial protein in the blood clotting process.

Understanding Von Willebrand's Disease

Von Willebrand factor helps platelets to adhere to each other and to the walls of blood vessels, which is an essential step in the formation of a blood clot. When vWF is deficient or defective, the clotting process is significantly impaired, leading to prolonged bleeding times even from minor cuts or injuries.

The severity of the condition can vary widely among affected dogs, ranging from mild to severe.

Types of vWD

Von Willebrand's Disease is classified into three types based on the level of severity and the specific genetic mutations involved:

  • Type 1 vWD is the most common and generally the mildest form. Dogs with Type 1 vWD have lower than normal levels of vWF.
  • Type 2 vWD is less common and involves a qualitative defect in the vWF protein. Dogs with Type 2 have normal or reduced levels of vWF, but the protein is dysfunctional.
  • Type 3 vWD is the rarest and most severe form. Dogs with this type have very little to no detectable vWF in their blood.

Symptoms

The symptoms of vWD can vary but often include:

  • Excessive bleeding from the nose, mouth, or genital area
  • Bleeding gums
  • Blood in the urine or faeces
  • Excessive bleeding following surgery or injury
  • Prolonged bleeding during estrus or after giving birth in females

Many dogs with mild forms of vWD may never show symptoms unless they undergo surgery or sustain significant injuries.

Diagnosis

Diagnosis of vWD involves a combination of clinical signs and diagnostic tests. The most definitive test is measuring the level of vWF in the blood. Genetic testing is also available for some breeds, which can identify carriers of the disease or those likely to develop it.

Management and Treatment

While there is no cure for vWD, the condition can be managed with careful monitoring and preparation:

  • Avoiding Certain Medications: Some medications, such as aspirin, can exacerbate bleeding tendencies and should be avoided in dogs with vWD.
  • Surgical Precautions: For procedures that cannot be avoided, such as spaying or neutering, veterinarians may recommend infusion of blood products that contain vWF prior to surgery to reduce the risk of excessive bleeding.
  • Emergency Preparedness: Owners of dogs with vWD should be aware of the signs of excessive bleeding and have a plan in place for emergency veterinary care.

Breeding Considerations

Responsible breeding practices are crucial for reducing the prevalence of vWD. Genetic testing allows breeders to identify carriers of the disease and make informed decisions to avoid producing affected offspring. By selecting against the genes responsible for vWD, breeders can gradually reduce the incidence of the disorder in future generations.


Von Willebrand's Disease is a significant genetic disorder affecting blood clotting in dogs, with some breeds being more predisposed than others. Understanding the condition, coupled with vigilant management and responsible breeding practices, can help mitigate the risks and improve the quality of life for affected dogs.

Degenerative Myelopathy

Degenerative myelopathy (DM) is a progressive, incurable neurological disorder that affects the spinal cord, primarily in older dogs. It leads to a gradual loss of coordination and strength in the hind limbs, eventually resulting in paralysis. German Shepherds, Boxers, Pembroke Welsh Corgis, and several other breeds are known to have a higher predisposition to this condition, suggesting a genetic component to its incidence.

The disease usually manifests in dogs between 8 to 14 years of age, but it can occur earlier or later.

Pathophysiology

Degenerative myelopathy initially affects the white matter of the spinal cord, particularly the part that transmits signals to and from the hind limbs. The disease causes the myelin sheath, which insulates nerve fibres and facilitates the rapid transmission of electrical signals, to deteriorate. This degeneration disrupts communication between the brain and limbs, leading to the clinical symptoms observed in affected dogs.

Symptoms and Progression

The progression of degenerative myelopathy occurs in stages:

  • Early Stage: The initial signs may be subtle, including loss of coordination (ataxia) in the hind legs, difficulty standing up, and dragging of the feet. These may be mistaken for normal signs of aging.
  • Intermediate Stage: As the disease progresses, symptoms become more pronounced. Dogs may exhibit significant weakness in the hind limbs, partial paralysis, and difficulty controlling bowel and bladder functions.
  • Late Stage: The final stages of DM involve complete paralysis of the hind limbs. The disease may progress to affect the front limbs, leading to quadriplegia. At this point, quality of life considerations become paramount.

Diagnosis

Diagnosing degenerative myelopathy involves ruling out other conditions that can cause similar symptoms, such as spinal cord tumors, intervertebral disc disease, or chronic degenerative radiculomyelopathy (CDRM). A definitive diagnosis can be challenging but may be supported by advanced imaging techniques (MRI, CT scans), cerebrospinal fluid analysis, and, importantly, genetic testing. A specific mutation in the SOD1 gene has been identified in many dogs with DM, providing a genetic basis for the disorder.

Management and Treatment

While there is no cure for degenerative myelopathy, management focuses on maintaining quality of life:

  • Physical Rehabilitation: Physical therapy, including exercises, swimming, and the use of mobility aids (wheelchairs), can help maintain muscle strength and mobility for as long as possible.
  • Nutritional Support: A balanced diet, potentially supplemented with antioxidants, may support overall health, though no specific nutritional regimen has been proven to alter the course of DM.
  • Comfort Measures: As mobility decreases, ensuring the dog has a comfortable, accessible environment and managing any secondary complications (like urinary tract infections due to incontinence) is important.

Research and Hope for the Future

Ongoing research into degenerative myelopathy includes studies on the genetic aspects of the disease, with the hope of developing gene therapy or other treatments that could modify the course of the disease. Understanding the genetic underpinnings has already led to the development of a genetic test, allowing breeders to identify carriers of the SOD1 mutation and make informed breeding decisions to reduce the incidence of DM in future generations.

Ethical Breeding Practices

With the availability of genetic testing, breeders have a powerful tool to minimize the risk of degenerative myelopathy in susceptible breeds. By testing breeding stock and considering the genetic status of potential sires and dams, breeders can work towards eliminating this devastating disease from the gene pool over time.

In conclusion, degenerative myelopathy is a challenging condition that requires a comprehensive approach to management focused on maintaining the affected dog's quality of life. Advances in genetic research provide hope for future interventions and highlight the importance of responsible breeding practices in reducing the prevalence of this disease.

German Shepherd

Dilated Cardiomyopathy (DCM)

Dilated Cardiomyopathy (DCM) is a serious condition that affects the heart's ability to pump blood effectively, due to an enlargement and weakening of the heart's ventricles. It is particularly prevalent in certain dog breeds, including Dobermans, Great Danes, and Irish Wolfhounds, pointing to a strong genetic predisposition. The disease often progresses silently, meaning that by the time symptoms become noticeable, the condition is typically advanced.

Understanding DCM

In DCM, the heart's ventricles dilate, meaning they become enlarged and stretched. This dilation impairs the heart muscle's ability to contract properly, leading to a decrease in the heart's pumping efficiency. As the disease progresses, it can lead to congestive heart failure, where the heart is unable to meet the body's needs for blood circulation, causing fluid buildup in the lungs, abdomen, and other tissues.

Symptoms

The symptoms of DCM can vary widely depending on the stage of the disease. Early in the disease, dogs might show no symptoms at all.

As the condition progresses, symptoms may include:

Diagnosis

Diagnosing DCM involves a combination of a thorough physical examination, the dog's medical history, and specific diagnostic tests. These tests can include chest X-rays, to visualise the heart's enlargement; an electrocardiogram (ECG), to detect abnormal heart rhythms; and most importantly, an echocardiogram (ultrasound of the heart), which can show the dilation of the ventricles and reduced heart function characteristic of DCM.

Genetic Factors

Research has identified specific genetic mutations associated with DCM in certain breeds. For example, in Doberman Pinschers, a mutation in the PDK4 gene has been linked to the disease. However, the genetic basis of DCM is likely polygenic and complex, involving multiple genes and possibly environmental factors, making it a challenge to predict and prevent.

Treatment and Management

While there is no cure for DCM, treatment aims to manage the symptoms and slow the progression of the disease.

Medications can include:

In addition to medication, dietary changes and restricted physical activity may be recommended to reduce the strain on the heart.

Prognosis

The prognosis for dogs diagnosed with DCM varies. In breeds like Doberman Pinschers, where the disease tends to be more aggressive, the prognosis can be poor. Other breeds may live several years with appropriate management. Early detection and treatment can improve quality of life and extend survival time.

Breeding Practices

Given the genetic component of DCM, responsible breeding practices are crucial to reduce the prevalence of the disease. Genetic testing can help identify carriers of specific DCM-related mutations, although the complexity of the disease means that not all cases can be prevented through selective breeding alone. Breeding strategies should focus on genetic diversity and the health of the breed as a whole.


DCM is a significant health concern for certain dog breeds, with genetics playing a key role in its development. While treatment can help manage symptoms and improve quality of life, there is no cure, highlighting the importance of early detection, careful management, and responsible breeding practices.

Canine Multifocal Retinopathy

Canine Multifocal Retinopathy (CMR) is an inherited eye condition seen in several dog breeds, including Mastiffs, Bulldogs, Boxers, and others. It is characterised by the development of multiple, raised lesions on the retina, which is the light-sensitive layer of tissue at the back of the eye responsible for capturing images and sending them to the brain.

Despite its potentially alarming presentation, CMR typically does not lead to complete blindness but can cause varying degrees of visual impairment.

Understanding Canine Multifocal Retinopathy

CMR lesions are caused by the abnormal development of the retinal pigment epithelium (RPE), the layer of cells beneath the retina that supports its health and functionality. These lesions can appear as gray, white, or orange areas on the retina and may vary in size. The condition often manifests in dogs between a few months to a few years of age, with the lesions becoming stable or even showing regression over time.

Symptoms and Detection

The primary sign of CMR is the presence of the distinctive lesions on the retina, which a veterinarian can observe through a detailed eye examination. Symptoms from the dog's perspective might be minimal or subtle, given the non-progressive nature of the condition in many cases. Owners might notice slight changes in their dog's vision, particularly in low light conditions, or a cautiousness in unfamiliar environments.

Diagnosis

Diagnosis of CMR is primarily through a comprehensive eye examination by a veterinary ophthalmologist. This may include direct visualisation of the retina using specialized equipment. Genetic testing is also available for some breeds, which can confirm the diagnosis if the responsible genetic mutation is identified.

Treatment and Management

There is no specific treatment required for CMR, as the condition is typically non-progressive and does not lead to complete blindness. Management focuses on monitoring the condition to ensure that it does not impact the dog's quality of life significantly. Regular veterinary eye exams are recommended to keep track of the lesions and assess any changes in the dog's vision.

Genetic Considerations

CMR is an inherited condition, with the mode of inheritance varying by breed. In some breeds, it is autosomal recessive, meaning that a dog must inherit two copies of the mutated gene (one from each parent) to show symptoms of the disease. Genetic testing can identify carriers of the gene as well as affected dogs, providing valuable information for breeders to make informed decisions and reduce the incidence of CMR in future generations.

Implications for Breeders and Owners

For breeders, responsible breeding practices are essential to minimise the spread of CMR. This includes genetic testing of breeding animals and considering the results in breeding decisions. For owners, understanding that CMR typically does not lead to severe vision loss or blindness is reassuring. However, awareness and regular eye examinations are crucial to ensure any potential impact on vision is identified and managed effectively.


Canine Multifocal Retinopathy is a genetic condition affecting the retina, leading to lesions that may cause mild to moderate visual impairment. While it does not usually result in blindness, understanding and monitoring the condition are vital for the well-being of affected dogs.

Through responsible breeding and awareness, the impact of CMR can be minimized, ensuring affected dogs lead full and active lives.

Collie Eye Anomaly

The inherited eye condition commonly seen in Collies and related breeds, such as the Shetland Sheepdog, Australian Shepherd, and Border Collie, is known as Collie Eye Anomaly (CEA). CEA is a congenital condition, meaning dogs are born with it.

The severity of the condition can vary greatly among affected dogs, ranging from mild, which might not significantly affect vision, to severe, which can lead to blindness.

Understanding Collie Eye Anomaly

CEA affects the development of the eye, specifically the choroid, which is a layer of tissue supplying nutrients and oxygen to the retina, the light-sensitive layer at the back of the eye. The anomalies associated with CEA can include choroidal hypoplasia (underdevelopment or thinning of the choroid), colobomas (defects in the optic disc), retinal detachment, and atrophy of the optic nerve. These issues can compromise the eye's ability to process visual information, leading to varying degrees of visual impairment.

Symptoms and Detection

Many dogs with CEA do not show overt signs of visual impairment, especially in cases of mild to moderate severity. The condition is typically bilateral, affecting both eyes, though the degree of impact can vary between the eyes. Severe cases, particularly those involving retinal detachment or significant colobomas, can lead to noticeable vision loss or blindness.

CEA is usually diagnosed through an eye examination by a veterinary ophthalmologist. This exam can identify characteristic changes associated with the condition, even in very young puppies, which is crucial for early detection.

Genetic Basis and Breeding Considerations

CEA is inherited in an autosomal recessive manner, which means that a dog must inherit two copies of the defective gene (one from each parent) to be affected. Dogs with one copy of the gene (carriers) do not show symptoms but can pass the gene to their offspring. This genetic understanding allows breeders to screen their dogs for CEA through genetic testing, which can identify affected dogs, carriers, and those free of the gene.

Responsible breeders use these genetic tests to make informed decisions about breeding pairs to reduce the incidence of CEA in future generations. By avoiding the breeding of two carriers or an affected dog and a carrier, breeders can significantly decrease the prevalence of the condition in the breed population.

Management of Affected Dogs

There is no cure for CEA, but most dogs with the condition live relatively normal lives, especially if their case is mild or moderate. Dogs with severe CEA or those who become blind may require special care, including safe environments to prevent injuries and training to adapt to their limited vision.

Owners of dogs with CEA should have their pets' vision monitored regularly by a veterinarian to identify any changes or complications early. Additionally, understanding the condition's genetic nature can help owners make informed decisions about spaying or neutering affected dogs to prevent the transmission of the gene to future generations.

In summary, Collie Eye Anomaly is a significant inherited condition in Collies and related breeds, with a wide range of severity. While it can lead to blindness in severe cases, many affected dogs lead full lives with minimal impact on their vision. Through responsible breeding practices, including genetic testing and selective breeding strategies, the prevalence of CEA can be reduced, contributing to the overall health and well-being of these beloved breeds.

The Importance of Genetic Testing

The field of veterinary science has seen remarkable advancements in the realm of genetic testing, making it a powerful tool in the fight against inherited diseases in dogs.

This progress has significantly impacted how breeders approach the health and genetic integrity of their breeding programs. Genetic tests can now identify carriers of specific diseases, affected individuals, and those completely free of certain genetic conditions.

This capability enables breeders to make informed decisions, reducing the prevalence of genetic disorders in future generations of dogs.

The Role of Genetic Testing in Breeding Programs

Genetic testing offers several benefits in the context of responsible breeding:

  • Identification of Carriers: Testing allows breeders to identify dogs that carry one copy of a gene for a recessive disorder. While carriers are typically healthy themselves, they can pass the disease gene to their offspring. Knowing a dog's carrier status helps breeders avoid mating two carriers, which would risk producing affected puppies.
  • Prevention of Disease: By identifying and selectively breeding dogs that are free from specific genetic mutations, breeders can gradually reduce the occurrence of these diseases in the breed population.
  • Informed Decision Making: Genetic testing provides breeders with concrete data about their dogs' genetic health, enabling them to make decisions based not on guesswork but on solid evidence.
  • Preservation of Genetic Diversity: Thoughtful use of genetic testing can help maintain or even increase genetic diversity within a breed. By identifying carriers of rare genes, breeders can include these dogs in their breeding programs in a way that avoids producing affected offspring while preserving valuable genetic diversity.

How Genetic Testing Works

Genetic testing for dogs typically involves collecting a DNA sample from the dog, usually via a cheek swab or a blood sample. This sample is then sent to a laboratory specialising in veterinary genetic testing, where it is analysed for specific genetic markers associated with inherited diseases known to affect the breed.

Common Diseases Screened by Genetic Tests

The range of diseases that can be screened via genetic testing is continually expanding.

Some of the more common inherited diseases that breeders commonly test for include:

  • Hip Dysplasia: Though largely influenced by environmental factors, genetic predispositions play a crucial role.
  • Degenerative Myelopathy (DM): A progressive disease of the spinal cord, leading to paralysis.
  • Von Willebrand's Disease (vWD): A blood clotting disorder.
  • Progressive Retinal Atrophy (PRA): A group of diseases leading to blindness.
  • Collie Eye Anomaly (CEA): An eye disorder that can lead to vision problems or blindness.
  • Dilated Cardiomyopathy (DCM): A serious heart condition.

Challenges and Considerations

While genetic testing offers many benefits, it also presents challenges. One risk is the potential for overemphasis on genetic purity, which could lead to reduced genetic diversity if dogs are excluded from breeding programs based solely on their carrier status for certain diseases.

Breeders must balance the desire to reduce the incidence of genetic disorders with the need to maintain a broad genetic base within the breed.

A negative test result does not guarantee a puppy will never develop any health issues, as not all diseases are genetic, and not all genetic diseases can be tested for currently. Thus, while genetic testing is a powerful tool, it should be one component of a comprehensive approach to breeding healthy dogs.


The accessibility of genetic testing in veterinary science represents a significant advancement in the effort to breed healthier dogs. Responsible use of these tests allows breeders to reduce the likelihood of inherited diseases in puppies, contributing to the overall health and longevity of future generations.

Implications for Dog Owners

Owners of breeds predisposed to these genetic conditions should be aware of the signs and symptoms. Regular veterinary check-ups and a proactive approach to health can help in managing these diseases.

While many dog breeds are predisposed to certain genetic diseases, awareness and responsible breeding can help mitigate these risks. For dog owners, understanding these genetic predispositions is crucial in providing the best care for their furry companions. Advances in genetic research continue to provide hope for better management and treatment of these conditions in the future.

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