Dilated Cardiomyopathy (DCM)
|
Disease-Associated Genetic Mutations
|
THE DISEASE. Dilated Cardiomyopathy is heart disease resulting from the inability of the heart to contract normally. This abnormal heart function signals the dog's system that the heart isn't pumping enough blood. To compensate for the heart's poor contractile ability, the heart dilates (grows larger) increasing the heart chamber size which, in the early stages of the disease, will improve output of the heart (stroke volume). At this stage, the dog shows no sign of illness. As the disease progresses, further dilation of the heart no longer improves stroke volume but, in fact, leads to increasing pressure inside the heart. This, in turn, causes blood to back up in the blood vessels and lungs, which causes fluid to leak into the lungs. This fluid in the lungs causes difficulty breathing, coughing, and eventually death.
SYMPTOMS AND PROGNOSIS. Symptoms and progression vary widely. Some dogs will have no visible symptoms (they appear to be 100% healthy) and yet die without warning. This can happen in dogs as young as several months old. Other dogs will display heavy breathing, wheezing, coughing, loss of energy and appetite. Sadly, this deadly condition is not curable, although diuretics and other medications may provide some measure of comfort for the dog. Typical life expectancy for a Doberman, once diagnosed with this condition, is six additional months. Unfortunately, the most common sign of DCM is sudden death.
TESTING.
Testing for DCM is of two varieties: (1) Clnical, and (2) Genetic. Clinical testing is done by your veterinarian or a Veterinary Cardiologist. Keep in mind that clinical cardio screening results are a "snapshot" of the dog's cardio health at the time of testing. A dog can test perfectly normal, and yet show symptoms (including sudden death) six months later. Why conduct clinical tests if they don't guarantee a dog won't later suffer from DCM? To ensure the dogs who are subclinical for DCM (meaning they have "occult DCM" but do not yet show any symptoms) are not bred. Only dogs who have recent (within the past 12 months) Echocardiogram and 24-hour Holter monitor results that show the dog does not show symptoms of developing DCM should be bred.
GOLD STANDARD Testing for Dilated Cardiomyopathy.
1) Annual echocardiogram (an ultrasound of the heart), AND
2) 24 hour Holter Monitoring.
This testing combination can assess a dog's current heart health. This testing must be done annually and can be expensive. As such, ANNUAL Echos and Holters speak volumes about a breeder's commitment to ensuring they do not breed a dog which, though he appears healthy, is not developing DCM.
ProBNP Testing.
Veterinarians can also perform an affordable, simple blood test that measures the concentration of NTproBNP in a dog's blood. This test can be a good indicator of current heart health, though not as informative as an echocardiogram and 24-hour Holter monitor. The ProBNP test provides a quantitative assessment of a dog's heart health by measuring the concentration of NTproBNP, which is released by cardiac myocytes in response to stretch and stress. Because NTproBNP is a marker of heart muscle wall stress, it is likely to be high in Dobermans with abnormal echos and early DCM. Levels are typically very high in Dobermans with heart failure and symptomatic DCM.
Genetic Testing for DCM: PDK4/DCM1 and DCM2
Two DNA genetic tests demonstrated to be associated with DCM in some Doberman populations are available. Note that association is not causation. The tests involves a simple cheek swab and don't necessitate a veterinary visit. At present, these two mutations (PDK4/DCM1 and DCM2) have not yet been definitively shown to "cause" DCM, they are believed to be a part of the DCM puzzle.
WHERE TO TEST
SYMPTOMS AND PROGNOSIS. Symptoms and progression vary widely. Some dogs will have no visible symptoms (they appear to be 100% healthy) and yet die without warning. This can happen in dogs as young as several months old. Other dogs will display heavy breathing, wheezing, coughing, loss of energy and appetite. Sadly, this deadly condition is not curable, although diuretics and other medications may provide some measure of comfort for the dog. Typical life expectancy for a Doberman, once diagnosed with this condition, is six additional months. Unfortunately, the most common sign of DCM is sudden death.
TESTING.
Testing for DCM is of two varieties: (1) Clnical, and (2) Genetic. Clinical testing is done by your veterinarian or a Veterinary Cardiologist. Keep in mind that clinical cardio screening results are a "snapshot" of the dog's cardio health at the time of testing. A dog can test perfectly normal, and yet show symptoms (including sudden death) six months later. Why conduct clinical tests if they don't guarantee a dog won't later suffer from DCM? To ensure the dogs who are subclinical for DCM (meaning they have "occult DCM" but do not yet show any symptoms) are not bred. Only dogs who have recent (within the past 12 months) Echocardiogram and 24-hour Holter monitor results that show the dog does not show symptoms of developing DCM should be bred.
GOLD STANDARD Testing for Dilated Cardiomyopathy.
1) Annual echocardiogram (an ultrasound of the heart), AND
2) 24 hour Holter Monitoring.
This testing combination can assess a dog's current heart health. This testing must be done annually and can be expensive. As such, ANNUAL Echos and Holters speak volumes about a breeder's commitment to ensuring they do not breed a dog which, though he appears healthy, is not developing DCM.
ProBNP Testing.
Veterinarians can also perform an affordable, simple blood test that measures the concentration of NTproBNP in a dog's blood. This test can be a good indicator of current heart health, though not as informative as an echocardiogram and 24-hour Holter monitor. The ProBNP test provides a quantitative assessment of a dog's heart health by measuring the concentration of NTproBNP, which is released by cardiac myocytes in response to stretch and stress. Because NTproBNP is a marker of heart muscle wall stress, it is likely to be high in Dobermans with abnormal echos and early DCM. Levels are typically very high in Dobermans with heart failure and symptomatic DCM.
Genetic Testing for DCM: PDK4/DCM1 and DCM2
Two DNA genetic tests demonstrated to be associated with DCM in some Doberman populations are available. Note that association is not causation. The tests involves a simple cheek swab and don't necessitate a veterinary visit. At present, these two mutations (PDK4/DCM1 and DCM2) have not yet been definitively shown to "cause" DCM, they are believed to be a part of the DCM puzzle.
WHERE TO TEST
Learn More
2011 Genetic research results from Europe:: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0020042
To watch a video from Washington State University about Doberman Pinscher Dilated Cardiomyopathy, click HERE.
To learn more about the University of Veterinary Medicine Hannover DCM Genetics Project, click HERE.
To read a study that established DCM as an inherited, autosomal dominant trait, click HERE
GPT -- Alanine Aminotransferase Activity (Liver)
|
Gene Name: GA
Chromosome: 13 Inheritance: Codominant Mutation: Mutation Genetic Testing:
GPT Test Included in Testing through the Doberman Diversity Project.
NOTE: This test is incuded in a broad genetic test panel) |
MDR1 -- Multidrug Sensitivity
|
Gene Name: NN
Chromosome: 14 Inheritance: Codominant Mutation: Mutation Genetic Testing:
DM Test Included in Testing through the Doberman Diversity Project.
NOTE: This test is incuded in a broad genetic test panel) |
Degenerative Myelopathy (SOD1)
|
Chromosome: 31
Inheritance: Autosomal Recessive with Incomplete Penetrance Mutation: Point Mutation Genetic Testing:
DM Test Included in Testing through the Doberman Diversity Project.
NOTE: This test is incuded in a broad genetic test panel) |
Chronic Active Hepatitis (CAH)
|
Chromosome: Unknown
Inheritance: Unknown Mutation: Unknown |
|
CAH is a progressive inflammation state that cause the liver to break down, and results in toxic levels of copper to be stored in the liver, and often leads to liver failure and death. No standard treatment yet exists, and the cause of CAH remains unknown. Females are more prone to the disease than males, and it can show up at any age. The average age however is middle aged, 4 to 6 years old. Researchers believe this is likely to be an inherited disease, but more research is needed.
|
Clinical Testing:
Liver Biopsy Test through your veterinarian
|
Genetic Test DNA Test Has Not Yet been Developed
|
von Willebrand's Disease (vWD)
|
Chromosome: 27
Inheritance: Autosomal Recessive Mutation Type: Point Mutation
|
Renal Dysplasia (RD) -- Genetic (inherited)
DNA/Genetic Testing is available for Renal Dysplasia. LINK
Renal dysplasia (RD) is a form of kidney diseases that affects Dobermans. Dysplasia is any abnormal growth or development of cells or organs. In the case of RD, the kidney fails to develop properly during embryogenesis in the womb. At birth, immature structures consisting of undifferentiated fetal cells or tissue types are found in the kidney, and are persistent throughout the life of the animal. Renal dysplasia can present with a wide range of symptoms and pathological findings. Definitive diagnosis of RD is done by a wedge biopsy of the kidney which reveals dysplastic lesions, including abnormal ducts, and glomeruli. Individuals with an abnormal biopsy can be asymptomatic (show no signs of the disease). On the other hand, the dog may present with classic signs of chronic end stage renal failure, or anywhere between these two extremes. Given this broad spectrum of symptoms, "affected" individuals often go undetected and remain in the breeding population.
RD is inherited as "dominant with incomplete penetrance." This means that animals with one or two copies of the mutation are at risk for developing the disease and/or passing this on to their progeny. Most "carriers" or "homozygotes" for the mutation are sub-clinical (they do not display signs of illness). The possible results from the genetic (DNA) test for this disease are:
a) "Carrier" - (one copy of a RD mutation)
b) "Homozygous" mutant allele = Homozygote (two copies of a RD mutation)
c) "Clear" - No copies of the RD mutation are present.
With a) or b) results the animal is potentially affected by RD or may be clinically normal. However, clinically normal animals can pass the disease on to their offspring. Breeders should aim to breed only "clear" dogs to "clear" bitches. Through effective use of the RD DNA test and careful breeding decisions, breeders can eliminate RD from the Doberman breed without compromising the gene pool. Genetic Testing for Renal Dysplasia in a Doberman can be performed for $130.
Renal dysplasia (RD) is a form of kidney diseases that affects Dobermans. Dysplasia is any abnormal growth or development of cells or organs. In the case of RD, the kidney fails to develop properly during embryogenesis in the womb. At birth, immature structures consisting of undifferentiated fetal cells or tissue types are found in the kidney, and are persistent throughout the life of the animal. Renal dysplasia can present with a wide range of symptoms and pathological findings. Definitive diagnosis of RD is done by a wedge biopsy of the kidney which reveals dysplastic lesions, including abnormal ducts, and glomeruli. Individuals with an abnormal biopsy can be asymptomatic (show no signs of the disease). On the other hand, the dog may present with classic signs of chronic end stage renal failure, or anywhere between these two extremes. Given this broad spectrum of symptoms, "affected" individuals often go undetected and remain in the breeding population.
RD is inherited as "dominant with incomplete penetrance." This means that animals with one or two copies of the mutation are at risk for developing the disease and/or passing this on to their progeny. Most "carriers" or "homozygotes" for the mutation are sub-clinical (they do not display signs of illness). The possible results from the genetic (DNA) test for this disease are:
a) "Carrier" - (one copy of a RD mutation)
b) "Homozygous" mutant allele = Homozygote (two copies of a RD mutation)
c) "Clear" - No copies of the RD mutation are present.
With a) or b) results the animal is potentially affected by RD or may be clinically normal. However, clinically normal animals can pass the disease on to their offspring. Breeders should aim to breed only "clear" dogs to "clear" bitches. Through effective use of the RD DNA test and careful breeding decisions, breeders can eliminate RD from the Doberman breed without compromising the gene pool. Genetic Testing for Renal Dysplasia in a Doberman can be performed for $130.
Head Bobbing Syndrome -- Genetic (inherited)
DNA/genetic testing for Head Bobbing Disease is not yet available.
Head bobbing is characterized by episodes of head shaking or head trembling. This disease affects Dobermann Pinschers and other breeds such as Boxers, French, and English Bulldogs. Head bobbing is a benign condition, which does not require any specific treatment. The time span between episodes of head shaking may last days or even months. The cause of head bobbing in the Dobermann Pinscher has not yet beed identified. Head bobbing is not related to epilepsy, as once suspected. Geneticists, together with specialized neurologists from the University of Munich, are searching for a genetic component of this disease. If you know of a dog that is affected by this disease, encourage the owners to contact the researchers and consider donating an EDTA sample of affected dog's (and their parents and siblings) blood to the research program. Further information on the scientific study (University of Munich).
Head bobbing is characterized by episodes of head shaking or head trembling. This disease affects Dobermann Pinschers and other breeds such as Boxers, French, and English Bulldogs. Head bobbing is a benign condition, which does not require any specific treatment. The time span between episodes of head shaking may last days or even months. The cause of head bobbing in the Dobermann Pinscher has not yet beed identified. Head bobbing is not related to epilepsy, as once suspected. Geneticists, together with specialized neurologists from the University of Munich, are searching for a genetic component of this disease. If you know of a dog that is affected by this disease, encourage the owners to contact the researchers and consider donating an EDTA sample of affected dog's (and their parents and siblings) blood to the research program. Further information on the scientific study (University of Munich).
Wobbler's Syndrome (Cervical Vertebral Instability or CVI)
DNA/genetic testing for Wobbler's Syndrome is not yet available.
The term Wobbler's disease has become common usage for CVI because of the distinctive gait displayed by dogs with CVI. This disease causes neck vertebrae (usually at the base of the neck in Dobermans, in or near vertebrae C5, C6, or C7) to become unstable and to shift, often resulting in pinching of the spinal cord. Although it is most commonly found in the neck, it can affect any part of the body. Unfortunately, this disease is often seen in Dobermans. The condition is generally not painful, at least not in its early stages. As the dog becomes more paralyzed, foot-dragging, stumbling, difficulty in getting up, and loss of urinary and bowel functions may occur. It rarely strikes until middle age (three or four years and older) and typically begins to cause pain and/or paralysis. Once the disease progresses, a dog's chances of recovery are almost non-existent.
Your vet can diagnose this disease via myelogram -- a fairly invasive procedure that you and your vet must decide upon together. Use only a very experienced veterinarian for this procedure. Adverse effects of poorly performed myelograms can be devastating and, in some cases, worse than the original disease. A less invasive alternative diagnostic tool, Magnetic Resonance Imaging (MRI), is now available through most specialty vet practices. While there is no cure for CVI, surgical intervention can stabilize the affected area but it must be done at the first onset of the disease. Surgery for this condition is rarely viable. It is expensive, has a three to ten month recuperation period, and does not appear to reverse existing damage. Short-term relief may be provided by corticosteroid medications, which help to relieve the pressure.
The term Wobbler's disease has become common usage for CVI because of the distinctive gait displayed by dogs with CVI. This disease causes neck vertebrae (usually at the base of the neck in Dobermans, in or near vertebrae C5, C6, or C7) to become unstable and to shift, often resulting in pinching of the spinal cord. Although it is most commonly found in the neck, it can affect any part of the body. Unfortunately, this disease is often seen in Dobermans. The condition is generally not painful, at least not in its early stages. As the dog becomes more paralyzed, foot-dragging, stumbling, difficulty in getting up, and loss of urinary and bowel functions may occur. It rarely strikes until middle age (three or four years and older) and typically begins to cause pain and/or paralysis. Once the disease progresses, a dog's chances of recovery are almost non-existent.
Your vet can diagnose this disease via myelogram -- a fairly invasive procedure that you and your vet must decide upon together. Use only a very experienced veterinarian for this procedure. Adverse effects of poorly performed myelograms can be devastating and, in some cases, worse than the original disease. A less invasive alternative diagnostic tool, Magnetic Resonance Imaging (MRI), is now available through most specialty vet practices. While there is no cure for CVI, surgical intervention can stabilize the affected area but it must be done at the first onset of the disease. Surgery for this condition is rarely viable. It is expensive, has a three to ten month recuperation period, and does not appear to reverse existing damage. Short-term relief may be provided by corticosteroid medications, which help to relieve the pressure.
Hip Dysplasia
|
Source: Unknown. If you can help give credit to this photo, please email us.
|
The degree to which dogs exhibit symptoms depends upon many factors such as the strength of the muscle and ligament which help hold the joint in place. It can vary in severity from mild to completely debilitating. Other factors include rapid growth and weight gain which can stress the young joint -- very compelling reasons to follow your veterinarian's guidance as to feeding and exercise as your puppy is growing.
Studies have proven that dysplastic puppies whose diet is controlled in order to slow growth and weight gain may display no outward sign of the condition and may remain functional despite severe dysphasia. This approach allows the muscles and ligaments to develop enough to compensate for bone failure. Some people believe that they can cause dysplasia in their dog by too much exercise however, most vets agree that this is not the case. In other words, how you raise your puppy won't determine whether or not your puppy is dysplastic, but it can affect when and, perhaps whether, he begins to develop symptoms as well as their severity. Some factors which may hasten or worsen symptoms include rough play, jumping, climbing stairs, slick floors, excess weight gain or rapid growth and calcium supplementation which may increase bone remodeling.
Testing for Hip Dysplasia. OFA X-ray testing can be done at 2 years of age and the dog's x-rays can be sent to the Orthopedic Foundation for Animals (OFA) for subjective analysis by three veterinary radiologists and to have their results (excellent, good or fair) registered on that site (OFFA.org). Fortunately, hip dysplasia in Dobermans has been on the decline in recent years thanks to the diligent efforts of reputable breeders to avoid breeding animals with poor OFA ratings.
OFA (hips) test results should be considered standard once the dog has reached two years of age. The results for a dog tested at or beyond two years of age are lasting -- that is, the dog doesn't need to have its hips checked annually.
Studies have proven that dysplastic puppies whose diet is controlled in order to slow growth and weight gain may display no outward sign of the condition and may remain functional despite severe dysphasia. This approach allows the muscles and ligaments to develop enough to compensate for bone failure. Some people believe that they can cause dysplasia in their dog by too much exercise however, most vets agree that this is not the case. In other words, how you raise your puppy won't determine whether or not your puppy is dysplastic, but it can affect when and, perhaps whether, he begins to develop symptoms as well as their severity. Some factors which may hasten or worsen symptoms include rough play, jumping, climbing stairs, slick floors, excess weight gain or rapid growth and calcium supplementation which may increase bone remodeling.
Testing for Hip Dysplasia. OFA X-ray testing can be done at 2 years of age and the dog's x-rays can be sent to the Orthopedic Foundation for Animals (OFA) for subjective analysis by three veterinary radiologists and to have their results (excellent, good or fair) registered on that site (OFFA.org). Fortunately, hip dysplasia in Dobermans has been on the decline in recent years thanks to the diligent efforts of reputable breeders to avoid breeding animals with poor OFA ratings.
OFA (hips) test results should be considered standard once the dog has reached two years of age. The results for a dog tested at or beyond two years of age are lasting -- that is, the dog doesn't need to have its hips checked annually.
Hypothyroidism (low thyroid function)
Testing (MSU Thyroid Panel) is available for Hypothyroidism. LINK
Antibodies are proteins designed to defend the body from foreign organisms such as bacteria and viruses. In autoimmune hypothyroidism, antibodies attack and destroy thyroid gland cells preventing the gland from being able to release normal amounts of thyroid hormone. The term hypothyroidism has been loosely applied to describe all stages of this disease process whereas, strictly speaking, it should be reserved for the end-stages when the animal’s thyroid gland is no longer capable of producing sufficient hormones to sustain clinical health. Symptoms of hypothyroidism may include droopy eyes, a "tragic" facial expression, muscle wasting of head and/or body, lethargy, fatigue, weight gain, thinning of hair along the back ("razor back"), disruption of reproductive seasons, females failing to impregnate and/or carry to term and temperament changes. It is also frequently linked to adrenal insufficiency, allergies, hives, dry skin, vomiting and intolerance to cold or heat. Hyperactivity (overactive thyroid), weight loss and aggression can occur with hyperthyroidism.
Hypothyroidism develops in genetically susceptible animals and is characterized by the presence of anti-thyroid antibodies in the blood or tissues. In most cases, it starts around puberty and gradually progress through mid-life and old age to become clinically expressed hypothyroidism once the thyroid glandular reserves have been depleted. During the progression of the disease, the animal becomes more susceptible to other diseases (like von Willebrand’s). Fortunately, this disease is easy and inexpensive to treat.
Testing for Thyroid Disease: Thyroid screening is unlikely to be meaningful before puberty. Therefore, testing should commence once healthy dogs have reached sexual maturity (usually between 9 and 14 months in males and following the first estrus cycles in females). Thyroid titers should be done by your vet every 18 to 24 months throughout a dog’s life.
"Genetic testing for inherited hypothyroidism (autoimmune thyroiditis) is based on the presence of thyroglobulinauto antibodies. A dog with normal TgAA levels on two tests at least two years apart between two and six years of age is phenotypically normal. However, TgAA levels should not be measured within 2-3 months post-vaccination, as a transient iatrogenic rise can occur during this period."
Popular-Sire Syndrome: Keeping watch over health and quality issues in purebreds By Jerold S Bell, DVM, Tufts Cummings School of Veterinary Medicine.
Antibodies are proteins designed to defend the body from foreign organisms such as bacteria and viruses. In autoimmune hypothyroidism, antibodies attack and destroy thyroid gland cells preventing the gland from being able to release normal amounts of thyroid hormone. The term hypothyroidism has been loosely applied to describe all stages of this disease process whereas, strictly speaking, it should be reserved for the end-stages when the animal’s thyroid gland is no longer capable of producing sufficient hormones to sustain clinical health. Symptoms of hypothyroidism may include droopy eyes, a "tragic" facial expression, muscle wasting of head and/or body, lethargy, fatigue, weight gain, thinning of hair along the back ("razor back"), disruption of reproductive seasons, females failing to impregnate and/or carry to term and temperament changes. It is also frequently linked to adrenal insufficiency, allergies, hives, dry skin, vomiting and intolerance to cold or heat. Hyperactivity (overactive thyroid), weight loss and aggression can occur with hyperthyroidism.
Hypothyroidism develops in genetically susceptible animals and is characterized by the presence of anti-thyroid antibodies in the blood or tissues. In most cases, it starts around puberty and gradually progress through mid-life and old age to become clinically expressed hypothyroidism once the thyroid glandular reserves have been depleted. During the progression of the disease, the animal becomes more susceptible to other diseases (like von Willebrand’s). Fortunately, this disease is easy and inexpensive to treat.
Testing for Thyroid Disease: Thyroid screening is unlikely to be meaningful before puberty. Therefore, testing should commence once healthy dogs have reached sexual maturity (usually between 9 and 14 months in males and following the first estrus cycles in females). Thyroid titers should be done by your vet every 18 to 24 months throughout a dog’s life.
"Genetic testing for inherited hypothyroidism (autoimmune thyroiditis) is based on the presence of thyroglobulinauto antibodies. A dog with normal TgAA levels on two tests at least two years apart between two and six years of age is phenotypically normal. However, TgAA levels should not be measured within 2-3 months post-vaccination, as a transient iatrogenic rise can occur during this period."
Popular-Sire Syndrome: Keeping watch over health and quality issues in purebreds By Jerold S Bell, DVM, Tufts Cummings School of Veterinary Medicine.
Albino
Genetic/Inherited
In Germany, only black and brown Dobermans are accepted by the Dobermann Verein (DV). In the USA, the AKC/DPCA accepts four Doberman colors. These are black, red (in the USA, brown is referred to as "red"), blue, and fawn (also referred to as Isabella). In the Doberman breed there are only two sets of genes which interact to produce these colors -- the "B" locus (black/brown) and the "D" locus (dilute). Each of these color loci host two alleles (variants) in the Doberman; a capital letter conveys a "dominant" allele, while a lower-case letter conveys a "recessive" allele. Dominant alleles "dominate", or hide, the appearance of recessive alleles in the same locus. So we have B (black), b (brown), D (no dilute) and d (dilute).
Each dog carries two alleles at B locus and two alleles at the D locus. A dominant allele will mute the expression of a recessive allele. Blue dogs are the dilute form of black, and fawn/Isabelle dogs are the dilute form of brown/red. Health problems are known to accompany the dilution gene. Because albinism is associated with health problems and light sensitivity, Albino Dobermans are not permitted in the show ring and are though sometimes marketed as "rare" , Albino Dobermans are generally considered undesirable.
Each dog carries two alleles at B locus and two alleles at the D locus. A dominant allele will mute the expression of a recessive allele. Blue dogs are the dilute form of black, and fawn/Isabelle dogs are the dilute form of brown/red. Health problems are known to accompany the dilution gene. Because albinism is associated with health problems and light sensitivity, Albino Dobermans are not permitted in the show ring and are though sometimes marketed as "rare" , Albino Dobermans are generally considered undesirable.
DINGS (Doberman Pinscher Vestibular Deafness)
Genetic/Inherited
DNA/Genetic Research/Testing for Dings is Available. LINK
Affected puppies can exhibit clinical signs of vestibular defects (head tilt and possible loss of balance) as early as one to two weeks of age, though the presentation is commonly mild at a young age and becomes more pronounced as the dog ages. The affected dog can appear normal by a routine physical examination, however a neurological examination often reveals signs of bilateral vestibular disease and auditory testing (BAER exam) is critical to identify deafness. Pathological findings reveal degeneration with the cochlear portion of the inner ear. This disease was first reported in the Doberman Pinscher breed in the early 1980’s, and later clinically characterized in 1992. More recently the genetic basis of this recessively inherited disorder was resolved through the successful collaboration efforts of Dr. Mark Neff, Head of the Laboratory of Canine Genetics & Genomics at the Van Andel Research Institute, in Grand Rapids, MI, and Dr. Aubrey Webb of the CullenWebb Animal Neurology & Ophthalmology Center in NB, Canada. A causative genetic mutation was identified enabling the development of the now available DNA test. As the disorder is an autosomal recessive disease, breeders can now judiciously choose to reduce the prevalence of the disease by only crossing known heterozygous ("carrier" dogs) to known "unaffected" dogs or choose to only mate "unaffected" dogs. Learn more about testing here.
Affected puppies can exhibit clinical signs of vestibular defects (head tilt and possible loss of balance) as early as one to two weeks of age, though the presentation is commonly mild at a young age and becomes more pronounced as the dog ages. The affected dog can appear normal by a routine physical examination, however a neurological examination often reveals signs of bilateral vestibular disease and auditory testing (BAER exam) is critical to identify deafness. Pathological findings reveal degeneration with the cochlear portion of the inner ear. This disease was first reported in the Doberman Pinscher breed in the early 1980’s, and later clinically characterized in 1992. More recently the genetic basis of this recessively inherited disorder was resolved through the successful collaboration efforts of Dr. Mark Neff, Head of the Laboratory of Canine Genetics & Genomics at the Van Andel Research Institute, in Grand Rapids, MI, and Dr. Aubrey Webb of the CullenWebb Animal Neurology & Ophthalmology Center in NB, Canada. A causative genetic mutation was identified enabling the development of the now available DNA test. As the disorder is an autosomal recessive disease, breeders can now judiciously choose to reduce the prevalence of the disease by only crossing known heterozygous ("carrier" dogs) to known "unaffected" dogs or choose to only mate "unaffected" dogs. Learn more about testing here.
Inherited Eye Defects
Genetic/Inherited
Testing for Eye Diseases is now available. An OFA Eye Certification Registry Exam are conducted by Certified Canine Opthamologists. LINK
Dogs can inherit a variety of eye disorders. Before breeding, dogs should have their eyes examined and evaluated (known as an OFA Eye Certification Registry Exam) for a wide variety of diseases by a certified canine opthamologist. Fortunately, dobermans are fairly free of inherited eye disease with the most common being cataracts (which occur prior to 2 years of age and have not been conclusively shown to be an inherited trait) as well as microopthalmia (very small eyes) and persistent pupillary membrane, all of which are rare. Nonetheless, pre-breeding and periodic eye examinations are highly recommended.
Dogs can inherit a variety of eye disorders. Before breeding, dogs should have their eyes examined and evaluated (known as an OFA Eye Certification Registry Exam) for a wide variety of diseases by a certified canine opthamologist. Fortunately, dobermans are fairly free of inherited eye disease with the most common being cataracts (which occur prior to 2 years of age and have not been conclusively shown to be an inherited trait) as well as microopthalmia (very small eyes) and persistent pupillary membrane, all of which are rare. Nonetheless, pre-breeding and periodic eye examinations are highly recommended.
Narcolepsy
|
Gene(s) Affected: HCRTR2
Inheritance: Autosomal Recessive Mutation: Insertion |
Narcolepsy is an inherited disorder affecting Doberman Pinschers. Dogs with the inherited form of narcolepsy typically begin to show symptoms between one to six months of age. These puppies will be unable to stay awake for extended periods of time; episodes of collapse and sleep following positive stimulation such as play or food can occur. 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 appear to have other associated health problems.
Genetic testing of the HCRTR2 gene will reliably determine whether a dog is a genetic "carrier" of Narcolepsy (Doberman Pinscher type). Narcolepsy (Doberman Pinscher type) is inherited in an autosomal recessive manner [meaning that a puppy must receive two copies of the mutated gene (one from each parent) to actually develop the disease]. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same genetic mutation, there is a risk of producing affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the HCRTR2 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.
Genetic testing of the HCRTR2 gene will reliably determine whether a dog is a genetic "carrier" of Narcolepsy (Doberman Pinscher type). Narcolepsy (Doberman Pinscher type) is inherited in an autosomal recessive manner [meaning that a puppy must receive two copies of the mutated gene (one from each parent) to actually develop the disease]. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same genetic mutation, there is a risk of producing affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the HCRTR2 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.
NOTE: The NEW OFA-ACVIM Congenital Cardiac Database has implemented a new Two-tiered cardiac disease clearance system which screens for: (1) congenital, and (2) adult onset cardiac disease. Why?
The Bottom Line:
- Improved statistical data regarding prevalence and progression of canine cardiac disease
- Exams limited to ACVIM/ECVIM Cardiology Diplomates
- Results meet all CHIC cardiac criteria
- No changes to OFA submission procedures.
The Bottom Line:
- Minimum testing age of twelve (12) months,
- OFA Ratings/Certificates will be one of three varieties: (1) “This dog has been found to be free of congenital cardiac disease" (valid for the dog's lifetime),” (2) “This dog has been found to be free of adult onset cardiac disease” (valid for only one year), or (3) “This dog has been found to be free of congenital and adult onset cardiac disease.”
- To maintain OFA Cardiac Rating for Adult Onset Cardiac Disease, dog must be tested annually.
- OFA will not certify ECHO without a Holter Monitor performed within 90 days.
- Your regular vet may not Interpret Holter test UNLESS he/she is a boarded veterinary cardiologists with Diplomate status in either the ACVIM or the ECVIM.
- Read More
A short video note on Dewclaws.
In the USA, we routinely remove the dewclaws from our dogs. It's just how it has been done. But in Europe, they retain the dewclaws and express dismay that Americans "chop off a puppy's 'thumb'!" Here is a glimpse at how Dobermans do indeed use their "thumbs" (dewclaws) when they are not amputated.