Degenerative Myelopathy

 

 

Other Names: Canine degenerative myelopathy, DM

Affected Genes: SOD1

Inheritance: Autosomal Recessive With Incomplete Penetrance

Mutation: Point Mutation

 

Common Symptoms

Degenerative Myelopathy is an inherited neurologic disorder caused by a Mutation of the SOD1 gene. This mutation is found in many breeds of dog, though it is not clear for some breeds whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the White Matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle Atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs.

Breed-Specific Information for the Goldendoodle

The goldendoodle is included as a breed susceptible to degenerative myelopathy because the Mutation of the SOD1 gene associated with the disease has been identified in poodles and golden retrievers. The overall frequency of this disease in the breed and approximate age of disease onset are unreported for goldendoodles. However, in one study of 533 standard poodles, 11.3% were carriers of the mutation. In that same study of 32 miniature and toy poodles tested, 9.4% were carriers and of 334 golden retrievers tested, 0.6% were carriers of the mutation. In addition, 3% of the golden retrievers and 0.9% of the standard poodles tested were at-risk/affected.

​

 

Neonatal Encephalopathy with Seizures

 

Other Names: NEWS

Affected Genes: ATF2

Inheritance: Autosomal Recessive

Mutation: Point Mutation

 

 

Common Symptoms

Neonatal Encephalopathy with Seizures is an inherited neurologic disease known to affect dogs. Affected puppies are smaller than littermates at birth, have difficulty nursing after a few days of life, and often die by 1 week of age. By 3 weeks of age, surviving puppies present with neurologic symptoms including muscle weakness, tremors, inability to walk, wide-based stance and frequent falling. The disease quickly progresses to severe seizures that become non-responsive to treatment. Affected dogs typically die or are euthanized by 7 weeks of age.

Breed-Specific Information for the Goldendoodle

The Goldendoodle is included as a breed susceptible to neonatal encephalopathy with seizures because the Mutation of the ATF2 gene associated with this disease has been identified in Standard Poodles. The frequency of the causal mutation in Goldendoodles is unknown.

​

 

 

Progressive Retinal Atrophy, Progressive Rod-Cone Degeneration

 

Other Names: PRA-PRCD, PRCD

Affected Genes: PRCD

Inheritance: Autosomal Recessive

Mutation: Point Mutation

 

 

Common Symptoms

Progressive retinal Atrophy, progressive Rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting Goldendoodles. PRA-prcd occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an Electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the Tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

Breed-Specific Information for the Goldendoodle

Goldendoodle is included as a breed susceptible to progressive retinal Atrophy, progressive Rod-cone degeneration because of its close relatedness to the Golden Retriever and Poodle breeds, which are known to develop this disease due to Mutation of the PRCD gene. The frequency of the causal mutation in the general Goldendoodle population is unknown.

 

​

 

Von Willebrand Disease I

 

Other Names: Pseudohemophilia, Vascular hemophilia, von Willebrand disease type 1, von Willebrand's disease, VWDI

Affected Genes: VWF

Inheritance: Autosomal Recessive

Mutation: Point Mutation

 

Common Symptoms

Von Willebrand disease I (VWD) is an inherited bleeding disorder affecting Goldendoodles. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf made such that not all dogs with two copies of the Mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery, trauma, or estrus. Dogs may show signs of lameness or stiffness if bleeding occurs in the joints or muscle. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

Breed-Specific Information for the Goldendoodle

Goldendoodle is included as a breed susceptible to von Willebrand disease I because of its close relatedness to the Standard Poodle breed, which is known to develop this disease due to Mutation of the VWF gene. The frequency of the causal mutation in the general Goldendoodle population is unknown.

 

 

 

Ichthyosis (Golden Retriever Type)

 

Affected Genes: PNPLA1 - also known as (Ich)

Inheritance: Autosomal Recessive With Variable Expressivity

Mutation: Complex Rearrangement

 

Common Symptoms

Ichthyosis (golden retriever type) is an inherited condition of the skin affecting dogs. The age of onset and severity of disease are highly variable, however most affected dogs present before one year of age with flaky skin and dull hair. Over time the skin develops a grayish color and appears thick and scaly, especially over the abdomen. The symptoms may progress to severe scaling all over the body, may improve with age, or may come and go over the dog’s lifetime. While the prognosis is generally good for affected dogs, they are at increased risk for skin infections.

Breed-Specific Information for the Goldendoodle

The Mutation of the PNPLA1 gene associated with ichthyosis (golden retriever type) has been identified in the goldendoodle. Though the exact frequency in the overall goldendoodle population is unknown, approximately 44% out of 1600 golden retrievers tested from Australia, France, Switzerland, and the United States were carriers of the mutation and approximately 29% were affected.

​

 

 

Progressive Retinal Atrophy, Golden Retriever 1

 

Other Names: GR-PRA1, GR1-PRA

Affected Genes: SLC4A3

Inheritance: Autosomal Recessive

Mutation: Insertion

 

Common Symptoms

Progressive retinal Atrophy, golden retriever 1 (GR-PRA1) is a late-onset inherited eye disease affecting dogs. Affected dogs begin showing clinical symptoms related to retinal degeneration between 6 to 7 years of age on average, though age of onset can vary. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the Retina called the Tapetum that can be observed on a veterinary eye exam. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, eventually progressing to complete blindness in most affected dogs.

Breed-Specific Information for the Goldendoodle

The goldendoodle is included as a breed susceptible to progressive retinal Atrophy, golden retriever 1 because golden retrievers are known to develop this disease due to Mutation of the SLC4A3 gene. The frequency of the causal mutation in the general goldendoodle population is unknown. However, in one study of 369 golden retrievers clinically free of disease tested from the UK, US, Sweden, and France, 10.5% were carriers of the mutation.

​

 

 

Progressive Retinal Atrophy, Golden Retriever 2

 

Other Names: GR-PRA2, GR2-PRA

Affected Genes: TTC8

Inheritance: Autosomal Recessive

Mutation: Deletion

 

 

Common Symptoms

Progressive retinal Atrophy, golden retriever 2 (GR-PRA2) is a late-onset inherited eye disease affecting dogs. Affected dogs begin showing clinical symptoms related to retinal degeneration at around 4 to 5 years of age on average, though age of onset can vary. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the Retina called the Tapetum that can be observed on a veterinary eye exam. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, progressing to complete blindness in most affected dogs.

Breed-Specific Information for the Goldendoodle

The goldendoodle is included as a breed susceptible to GR-PRA2 because golden retrievers are known to develop this disease due to Mutation of the TTC8 gene. The frequency of the causal mutation in the general goldendoodle population is unknown. However, in one study of golden retrievers either free of clinical disease or of unknown PRA status tested from the UK, US, France, and Sweden, 3% were carriers of the mutation.

​

 

 

Dystrophic Epidermolysis Bullosa

 

 

Other Names: Recessive dystrophic epidermolysis bullosa, DEB, EB, RDEB

Affected Genes: COL7A1

Inheritance: Autosomal Recessive

Mutation: Point Mutation

Breed(s): Golden Retriever, Goldendoodle*

 

Common Symptoms

Dystrophic epidermolysis bullosa (DEB) is a hereditary skin disease affecting dogs. Clinical signs of DEB are present at birth. Affected dogs have fragile skin that is easily damaged from rubbing or trauma resulting in blisters, ulcers and scarring of the skin. Areas that are most prone to blisters are the face, foot pads, genital areas and ears. In addition, affected dogs will develop blisters and ulcers inside the mouth and in the esophagus. Ulcerations of the skin and mucous membranes are painful and can become infected. Blistering of the skin tends to cease at around 8 months of age however, ulcers of the mouth and esophagus persist into adulthood. Dogs with DEB are often smaller than littermates, likely due to difficulties eating.

​

 

Osteochondrodysplasia

 

Other Names: Skeletal dwarfism, OCD

Affected Genes: SLC13A1

Inheritance: Autosomal Recessive

Mutation: Deletion

Breed(s): Aussiedoodle, Australian Labradoodle*, Bernedoodle*, Bordoodle, Cavapoo, Cockapoo*, Danoodle,Goldendoodle*, Labradoodle*, Maltipoo, Miniature Poodle, Newfypoo*, Poodle, Schnoodle,Sheepadoodle, Standard Poodle, Toy Poodle

 

Common Symptoms

Osteochondrodysplasia is an inherited Musculoskeletal disease affecting dogs. Affected dogs typically present at about 3 weeks of age with stunted growth. Puppies often walk differently than unaffected littermates and stand with their feet turned out and hind legs splayed. Their legs are short and bent with enlarged joints and clubbed feet. They also have flatted rib cages and under bites, which can affect their ability to nurse and breathe. While affected dogs can survive for many years with supportive care, they will develop arthritis and will likely have breathing difficulty due to their deformed ribcages.

 

 

 

Dystrophic Epidermolysis Bullosa

 

Other Names: Recessive dystrophic epidermolysis bullosa, DEB, EB, RDEB

Affected Genes: COL7A1

Inheritance: Autosomal Recessive

Mutation: Point Mutation

Breed(s): Golden Retriever, Goldendoodle

​

Common Symptoms

Dystrophic epidermolysis bullosa (DEB) is a hereditary skin disease affecting dogs. Clinical signs of DEB are present at birth. Affected dogs have fragile skin that is easily damaged from rubbing or trauma resulting in blisters, ulcers and scarring of the skin. Areas that are most prone to blisters are the face, foot pads, genital areas and ears. In addition, affected dogs will develop blisters and ulcers inside the mouth and in the esophagus. Ulcerations of the skin and mucous membranes are painful and can become infected. Blistering of the skin tends to cease at around 8 months of age however, ulcers of the mouth and esophagus persist into adulthood. Dogs with DEB are often smaller than littermates, likely due to difficulties eating.

 

 

 

GM2 Gangliosidosis (Poodle Type)

 

Other Names: Sandhoff disease, Type 0 gangliosidosis

Affected Genes: HEXB

Inheritance: Autosomal Recessive

Mutation: Deletion

Breed(s): Aussiedoodle, Australian Labradoodle*, Bernedoodle*, Bordoodle, Cavapoo, Cockapoo*, Danoodle,Goldendoodle*, Labradoodle*, Maltipoo, Miniature Poodle, Newfypoo*, Poodle, Schnoodle,Sheepadoodle, Standard Poodle, Toy Poodle

 

Common Symptoms

GM2 gangliosidosis (poodle type) is an inherited Lysosomal Storage Disorder affecting dogs. Affected dogs have insufficient activity of the Enzyme hexosaminidase B, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein, GM2 ganglioside, in cells, especially cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 9 to 12 months of age. Symptoms include vision loss, difficulties walking, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die between the ages of 18 and 23 months.

 

 

 

Muscular Dystrophy (Golden Retriever Type)

 

Other Names: Duchenne-type muscular dystrophy, Dystrophin muscular dystrophy, DMD, GRMD

Affected Genes: DMD

Inheritance: X-Linked Recessive

Mutation: Point Mutation

Breed(s): Australian Cobberdog, Golden Retriever, Goldendoodle

 

Common Symptoms

Golden Retriever muscular dystrophy is an inherited disease affecting Golden Retrievers. Affected dogs are unable to produce adequate amounts of a protein important for muscle contraction and relaxation. By 10 weeks of age affected puppies are noticeably smaller than littermates shortly after birth due to decreased growth associated with the inability to nurse. Affected dogs often need to be hand or bottle fed to prevent starvation. Beginning around 6 weeks of age, dogs begin to develop a progressively abnormal gait, muscle weakness, excessive drooling, muscle Atrophy of the head and trunk, abnormal extension or flexion of joints and a “roach backed” appearance in the lumbar spine that eventually progresses to a concave flexion. Affected dogs may also suffer from aspiration pneumonia and cardiac disease. The prognosis is related to disease severity with some dogs dying soon after birth due to disease complications and others surviving for years with only mild symptoms.

 

 

 

Osteogenesis Imperfecta (Golden Retriever Type)

 

Other Names: Brittle bone disease, OI

Affected Genes: COL1A1

Inheritance: Autosomal Dominant

Mutation: Point Mutation

Breed(s): Golden Retriever, Goldendoodle*

 

Common Symptoms

Osteogenesis imperfecta (OI) is an inherited Collagen disorder affecting dogs. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Affected puppies may die shortly after birth and be smaller than littermates. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

 

​

 

Sensory Ataxic Neuropathy

 

Other Names: SAN

Affected Genes: tRNA-Tyr

Inheritance: Mitochondrial

Mutation: Deletion

Breed(s): Golden Retriever, Goldendoodle*

 

Common Symptoms

Sensory ataxic neuropathy is an inherited neurologic condition affecting Golden Retrievers. Affected dogs typically present between 2 to 8 months of age with signs of neurologic disease. Symptoms include a lack of muscle coordination, abnormal gait and difficulty balancing especially affecting the hind limbs. Muscle mass appears normal and the condition does not appear to be painful. Although the disease progresses slowly, dogs are often humanely euthanized before three years of age.