vWD

Von Willebrand Disease Type I

vWD

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Autosomal Recessive with Incomplete Penetrance

Coagulopathies, disorders of blood clotting, can lead to symptoms such as easy bruising or bleeding. Dogs with coagulopathies are often at risk for excessive bleeding during veterinary procedures; your veterinarian should be informed so that appropriate blood products are at hand in case a transfusion is required. Affected dogs may also require close monitoring during their daily lives. If informed of your dog’s condition early, you and your veterinarian can discuss precautionary measures now.

DCM 1 & 2

Dilated Cardiomyopathy 1 & 2

DCM 1 & 2

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Autosomal Dominant

The most common acquired heart disease of dogs, this is a progressive disease of the heart ventricles: early diagnosis and treatment is key. The ventricles are the heavily muscled chambers that pump blood away from the heart. In DCM, the ventricles gradually lose muscle mass, leading to ventricular dilation, loss of heart contractility and an inability to pump oxygenated blood to the body. DCM typically presents in adult dogs in the end stages of the disease, when the heart is on its last legs. Signs include weakness, cold toes and ears, blue-grey gums and tongue, and respiratory distress: all signs of heart failure. Once a DCM dog comes to the vet, DCM can be diagnosed using specialized tests to evaluate the shape and activity of the heart muscle.

Degenerative Myelopathy

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Autosomal Recessive with Incomplete Penetrance

A disease of mature dogs, this is a progressive degenerative disorder of the spinal cord that can cause muscle wasting and gait abnormalities. Affected dogs do not usually show signs until they are at least 8 years old, where the first signs of neural degeneration appear in the nerves that innervate the hind limbs. You may notice your dog scuffing the tops of his or her hind paws, or walking with a hesitant, exaggerated gait. In advanced cases, lower motor neurons are also affected leading to weakness or near-paralysis of all four legs and widespread muscle wasting. Given the advanced age at the time of onset, the treatment for DM is aimed towards making your dog comfortable in his or her old age and includes lifestyle changes and physical therapy.

Malignant Hyperthermia

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Autosomal Recessive

Maligant hyperthermia (MH) is an inherited disorder of skeletal muscle characterized by hypercarbia, rhabdomyolysis, generalized skeletal muscle contracture, cardiac dysrhythmia, and renal failure, that develops on exposure to succinylcholine or volatile anesthetic agents. Specific interventions, including use of the calcium release channel antagonist dantrolene, are efficacious in reversing signs of the canine syndrome.

Narcolepsy

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Autosomal Recessive

Narcolepsy is an inherited disorder affecting Doberman pinschers. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

Hereditary Deafness

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Autosomal Recessive with Incomplete Penetrance

A congenital syndrome of hearing loss and vestibular dysfunction affects Doberman Pinschers. Its inheritance pattern is suspected to be autosomal recessive and it potentially represents a spontaneous animal model of an autosomal recessive syndromic hearing loss.

Understanding Genetics

HHow does an animal inherit a trait?

Inside each cell, the DNA is bound into a unit called a chromosome. Each chromosome contains hundreds or thousands of different genes. Chromosomes are found in pairs within the cell. Each cell contains two separate copies of each gene (alleles). While a human has 46 chromosomes (23 pairs), a cat has 38 chromosomes (19 pairs) and a dog has 78 chromosomes (39 pairs). The exception to this rule is sperm cells and egg cells. During the formation of these reproductive cells, each cell gets only one copy of each chromosome. Therefore, each reproductive cells contains only one copy of each gene.

HHeterozygous vs Homozygous

Heterozygous refers to having inherited different forms of a particular gene from each parent. Homozygous refers to having inherited the same alleles for a particular gene from both parent

AAutosomal Dominant

For an autosomal dominant disorder, only one copy of a given allele is necessary to produce the trait. If an animal receives an abnormal allele from one parent and a normal allele from the other parent, the abnormal trait will be expressed. Affected animals may express the trait to varying degrees, but all animals who carry a copy of the gene will be affected by the trait. Autosomal dominant genetic disorders are uncommon in breeding, because there are no asymptomatic carriers. All affected animals can be readily detected and removed from breeding programs.

AAutosomal Recessive

With an autosomal recessive genetic disorder, an animal must receive two copies of the abnormal gene (one from each parent) in order to show signs of the disorder. If the disorder is recessive, an animal who carries one copy of the abnormal gene and one copy of the normal gene will not show signs of disease. If two parents who are carriers are bred, however, 25% of their offspring will receive two abnormal copies of the gene and thus express the genetic disorder. Another 50% of their offspring will receive one abnormal copy of the gene and thus be genetic carriers of the disorder. Finally, 25% of their offspring will receive two normal copies of the gene and be unaffected.

IIncomplete Penetrance

Incomplete Penetrance refers to absence of disease despite presence of the dominant disease gene. For example, a dominant disease gene that causes disease 50% of the time is 50% penetrant.

NNEGATIVE / CLEAR [NO VARIANT DETECTED]

No presence of the variant (mutation) has been detected. The animal is clear of the disease and will not pass on any disease-causing mutation.

CCARRIER [ONE COPY OF THE VARIANT DETECTED]

This is also referred to as HETEROZYGOUS. One copy of the normal gene and copy of the affected (mutant) gene has been detected. The animal will not exhibit disease symptoms or develop the disease. Consideration needs to be taken if breeding this animal – if breeding with another carrier or affected or unknown then it may produce an affected offspring.

PPOSITIVE / AT RISK [TWO COPIES OF THE VARIANT DETECTED]

Two copies of the disease gene variant (mutation) have been detected also referred to as HOMOZYGOUS for the variant. The animal may show symptoms (affected) associated with the disease. Appropriate treatment should be pursued by consulting a Veterinarian.

PPOSITIVE HETEROZYGOUS [ONE COPY OF THE DOMINANT VARIANT DETECTED]

Also referred to as POSITIVE ONE COPY or POSITIVE HETEROZYGOUS. This result is associated with a disease that has a dominant mode of inheritance. One copy of the normal gene (wild type) and affected (mutant) gene is present. Appropriate treatment should be pursued by consulting a Veterinarian. This result can still be used to produce a clear offspring.

NNORMAL BY PARENTAGE HISTORY

The sample submitted has had its parentage verified by DNA. By interrogating the DNA profiles of the Dam, Sire and Offspring this information together with the history submitted for the parents excludes this animal from having this disease. The controls run confirm that the dog is NORMAL for the disease requested