Genetic Diseases

You don’t have to select a puppy from us, but please only select puppies from breeders whom have tested their breeding dogs for these diseases.

 

Your puppy can be a carrier for a gene, or clear of both genes and be asymptomatic or not affected. Affected or puppies with 2 copies of the genes are affected and will show symptoms.

 

At Maple Mountain we test all our dogs for these diseases and make sure we are not breeding affected puppies. This helps ensure happy healthy puppies. Our testing is listed under each sire or dams name in those tabs on our site. Testing certificates are always available upon request. 

 

 

Neuronal Ceroid Lipofuscinosis (NCL)

Description:

Neuronal Ceroid Lipofuscinosis is a progressive degenerative disease of the central nervous system. In Golden Retrievers, NCL is caused by a two base pair deletion in the CLN5 gene. This causes a frameshift in the genetic coding, leading to a premature termination codon.

 

Golden Retrievers with NCL begin to develop signs of the disease around 13 months old. Often the first sign of NCL is a loss of coordination during basic movements including walking, running, and climbing stairs. Sings of the disease are particularly noticeable when the dog is excited. As the disease progresses, the loss of coordination becomes evident even when the dogs is calm; the dogs may also experience tremors, seizures, or blindness. Compulsive behaviors, anxiety, and loss of previously learned behavior is also common. Affected dogs may also become agitated or aggressive as the disease continues to progress. Due to the severity of the disease and loss of quality of life, most affected dogs are euthanized by 2-3 years of age.

  

Progressive Retinal Atrophy (PRA) PRA1 & PRA2

Description:

Progressive Retinal Atrophy (PRA) is a category of genetic mutations that cause vision loss and blindness. Photoreceptor cells in the retina begin to degenerate, typically progressing from a loss of night vision to complete blindness.

 

Ichthyosis-A (ICH-A or ICT)

Description:

Ichthyosis is an autosomal recessive genetic mutation that affects the skin of Golden Retrievers. The mutation prevents the outer layer of the epidermis from forming properly, resulting in skin that becomes darkened and thick, with excessive flaking.

 

The name "Ichthyosis" is derived from the Greek word for fish. This describes the skin's resemblance to fish scales. The most common symptom of ICH-A is excessive flaking of the skin. Other symptoms include areas of hardened skin and hyperpigmentation, which may make the skin appear dirty or blackened. Symptoms can be mild or severe. Evidence of the disease may be detected when the dog is still a puppy, but symptoms may take a year or more to develop. Additionally, symptoms can improve or worsen, depending on stress and hormonal cycles.

 

Ichthyosis is  not dangerous to a dog's health, but can be unsightly and uncomfortable for the dog.

 

Degenerative Myelopathy (DM)

Description:

Degenerative Myelopathy (DM) is a progressive neurological disorder that affects the spinal cord of dogs. Dogs that have inherited two defective copies can experience a breakdown of the cells responsible for sending and receiving signals from the brain, resulting in neurological symptoms.

 

The disease often begins with an unsteady gait, and the dog may wobble when they attempt to walk. As the disease progresses, the dog's hind legs will weaken and eventually the dog will be unable to walk at all. Degenerative Myelopathy moves up the body, so if the disease is allowed to progress, the dog will eventually be unable to hold his bladder and will lose normal function in its front legs. Fortunately, there is no direct pain associated with Degenerative Myelopathy.

 

The onset of Degenerative Myelopathy generally occurs later in life starting at an average age of about 10-12 years. However, some dogs may begin experiencing symptoms much earlier.

 

Muscular Dystrophy

Description:

GRMD is a mutation of the dystrophin gene that causes a deficiency of dystrophin proteins in Golden Retrievers. The lack of dystrophin proteins leads to the progressive degeneration of skeletal and cardiac muscles. The disease is similar to the human disease, muscular dystrophy.

 

Symptoms appear relatively quickly, at about six weeks to two months of age. A dog with muscular dystrophy will exhibit muscle weakness, difficulty standing or walking normally, and difficulty swallowing. Symptoms can range from relatively mild to severe, but GRMD is generally fatal at about 6 months of age.


The GRMD mutation is sex-linked and located on the X chromosome. So while both male and female dogs can be affected, GRMD is mostly a disease related to male Goldens. Females can be carriers of the mutation, however, will not exhibit any symptoms. DNA testing to identify both male and female carriers is important to remove them from the breeding population.

Progressive Retinal Atrophy or PRA-prcd

Description:

Progressive Rod-Cone Degeneration, or PRA-prcd, is a form of Progressive Retinal Atrophy (PRA) in which the cells in the dog's retina degenerate and die. PRA for dogs is similar to retinitis pigmentosa in humans. Most affected dogs will not show signs of vision loss until 3-5 years of age. Complete blindness can occur in older dogs. Progressive Rod-Cone Degeneration is a form of PRA known to affect over 40 different breeds.

 

The retina is a membrane located in the back of the eye that contains two types of photoreceptor cells. These cells take light coming into the eyes and relay it back to the brain as electrical impulses. These impulses are interpreted by the brain to "create" images. In dogs suffering from PRA-prcd, the photoreceptors begin to degenerate, causing an inability to interpret changes in light. This results in a loss of vision. Rod cells, which normally function in low-light or nighttime conditions, begin to degenerate first. This leads to night-blindness. The cone cells, which normally function in bright-light or daytime conditions, will deteriorate next. This often leads to complete blindness over a period of time.

 

PRA-prcd is inherited as an autosomal recessive disorder. A dog must have two copies of the mutated gene to be affected by PRA. A dog can have one copy of the mutation and not experience any symptoms of the disease. Dogs with one copy of the mutation are known as carriers, meaning that they can pass on the mutation to their offspring. If they breed with another carrier, there is a 25% chance that the offspring can inherit one copy of the mutated gene from each parent, and be affected by the disease.

801-678-1602

©2017 by Maple Mountain English Creams