PWD Health Conditions



Currently, there are 11 committees focused on the various aspects of Water Dog health.  Health related subjects, however, don't end there. The PWDCA is proactive in meeting the needs of its members and their dogs. Each of our Health Committee members is knowledgeable and available to exchange information and ideas with owners and breeders. The well-being of our dogs is an ongoing process and the PWDCA responds with new committees and research projects when an important need arises.

 

Addison’s Disease is under the umbrella of the Endocrine Committee. Chair:Cheryl Hoofnagle

Health Condition

Addison’s disease is a dysfunction of the adrenal glands, aka hypoadrenocorticism or adrenal insufficiency. The disease is treatable and if caught early it is possible for affected patients to live normal, active lives.

Action Taken by the PWDCA

An Endocrine committee was formed to field questions, gather/store and report information regarding Addison’s.

Why the PWDCA is Addressing This

Portuguese Water Dogs (along with approximately a dozen other breeds) are predisposed to Addison’s. The median age of dogs diagnosed with Addison’s is 4–6 years, but has been reported in puppies and in dogs as old as 12 years of age.

 

 

Allergies are the focus of the Allergies, Hair loss, and Dermatology Committee. Current Chair: Open

By its name, three areas of interrelated concerns / interests are assigned to this committee.

Allergy

Portuguese Water Dogs, as most if not all other breeds of dogs, can suffer from as many allergies as people do. There are contact allergies, inhalant allergies and food allergies. In dogs, allergies present primarily as itchiness, skin eruptions and irritations, digestive upsets, coughing, sneezing and irritated eyes. Allergies can first present themselves when the dog is a puppy but may not develop until later when the dog is an adult or even a senior citizen. Allergies are debilitating and negatively affect the quality of life of an affected dog. "Treatments" include avoiding the aggravating allergens. Allergens can be food ingredients, ingredients in shampoos, dust, fleas and other parasites, pollens, molds, etc. Changes in diet, shampoo, etc. can help reduce or eliminate the allergic symptoms. Holistic and standard medicines may be recommended by veterinarians to alleviate symptoms.

Hair loss

Follicular Dysplasia:

Individual Portuguese Water Dogs can exhibit a genetic form of hair loss expressed as follicular dysplasia. It presents itself as patterned hair loss generally on the torso of the dog but can affect larger and larger regions of skin over time. The follicles of the hair are abnormal, or dysplastic, allowing the hair to fall out. In the early stages of this genetic hair loss, the hair will re-grow. Episodes of hair loss are often associated with environmental stress factors; such as but not limited to, inoculations, surgery, and / or illness. Many different breeds (Dobermans, Malamutes, Irish Water Spaniels, Boxers, etc.) have a follicular dysplastic condition. Some are structural follicular dysplasia like the PWD, while some are cyclic. Breeds with the cyclic problem produce normal hair but the hair cycle is abnormal so that hair falls out. Dogs with structural follicular dysplasia (the PWD, Doberman Pincher, etc) produce affected hair that become more abnormal with time. After numerous episodes, the hair ceases to regenerate. It has been found that all Portuguese Water Dogs with genetic hair loss have follicular dysplasia. It appears to primarily present itself in curly dogs produced from the mating of a curly sire to a curly dam. To date there is no verification of a genetically wavy Portuguese Water Dog exhibiting this genetic condition.

Follicular dysplasia does not cause itching or scratching. If a dog is itching and scratching with possible skin lesions and eruptions these are not caused by follicular dysplasia. The cause of these symptoms lies elsewhere; possibly parasites, allergies, tumors, sun exposure, dry skin or other causative reasons. The result of this itching and scratching are magnified in a dog that has hair loss due to follicular dysplasia as there is less or no hair to protect the skin on the affected areas of the body.

Dermatology

There are other causes for hair loss that are not this heritable form. Thyroid deficiency, Cushing's disease, allergies, parasites, environmental toxins and drugs are some agents that can cause the temporary loss of hair.

Another heritable hair coat issue in Portuguese Water Dogs is "improper coat". Portuguese Water Dogs with improper coat do not present with the coat described in the breed standard. A wavy improperly coated PWD will tend to look like a Flat Coated Retriever or Border Collie. A curly improperly coated PWD will tend to look like an American Water Spaniel or Curly Coated Retriever. It is also possible for improperly coated dogs to have some undercoat and possibly shed. This condition is one of appearance. In several other breeds which present with improper coats for their breed, the mode of inheritance for the improper coat is a simple recessive. It is likely that it is also a simple recessive in Portuguese Water Dogs although this has not yet been confirmed.

What the PWDCA is doing:

There is currently no ongoing research in any of these areas. However, in 1991, the members of the PWDCA participated in a skin punch biopsy study of Portuguese Water Dogs that exhibited patterned hair loss as compared to those who did not. The study confirmed that all dogs that exhibited patterned hair loss had follicular dysplasia. A follow up study, administered by a technician a few years later, attempted to establish whether hair, including the root bulb, plucked from a Portuguese Water Dog, could be used in early diagnosis of follicular dysplasia. The results of this second study were inconclusive.

Why the PWDCA is addressing this:

Allergies cause discomfort and effect the quality of life of Portuguese Water Dogs. Genetic Hair loss (follicular dysplasia), while not physically painful or debilitating, causes an appearance of illness and can open the skin to excessive sun exposure and cold exposure. People tend to shy away from affected dogs exhibiting hair loss for fear it is mange. Thus it affects the quality of life of the affect Portuguese Water Dog. It is an undesirable trait. Improper Coat is hereditary and is an inappropriate coat for the Portuguese Water Dog. It is not debilitating and does not affect the quality of life of improperly coated dogs. It however does affect their appearance in that they do not look like Portuguese Water Dogs. It is not correct to the AKC (nor other) Standard for the Portuguese Water Dog.

How the PWDCA is dealing with this:

It is recommended that Portuguese Water Dogs which exhibit genetic hair loss and / or improper coat not be used for breeding.

Individuals who have dogs with allergies, affected with genetic Hair loss (follicular dysplasia) or improper coat are requested to list this in the Health & Litter Log and notify the Committee so statistics can be gathered for possible future research.

Cancer is the focus of the Cancer Committee. Current Chair: Martha Ruskai

Cancer is a condition common to all dogs, not just Portuguese Water Dogs. It is commonly fatal, depending on the type of cancer and how early it is detected. Treatment frequently consists of surgery, chemotherapy, radiation, nutritional support and homeopathies.

Why the PWDCA is addressing this:

Cancer is currently the number one cause of death of Portuguese Water Dogs, based on the 2014 Health Survey. That survey found that 42% of the 357 deaths reported in the survey were caused by cancer with a little over 50% of these deaths caused by hemangiosarcoma (HSA).

How the PWDCA is dealing with this:

The PWDCA will continue to support ongoing cancer research in the hope it will someday lead to answers to or treatments for canine cancers. The PWDCA and the Cancer Committee will continue to raise funds to continue supporting canine cancer research.

How the PWDCA is doing this:

The PWDCA is supporting cancer research by collaborating with a variety of veterinary organizations, such as:

Dr. Jaime Modiano VMP, PhD. is working on a project that is looking at treatment and a test for the early detection of hemangiosarcoma. Dr. Modiano is in need of blood and tissue samples from dogs affected with hemangiosarcoma for his research. In the event that your dog is suspected of having hemangiosarcoma, please have your veterinarian contact Dr. Modiano’s lab at 612-624-1352 or by email at modiano@umn.edu. If time allows, they will send supplies and complete instructions to your vet for the collection of the tissue to be used in their research. They will provide your vet with a pathology report for the tumor samples provided to them. More information on this research can be found at Modiano Lab at the University of Minnesota.

Dr. Modiano provided the PWDCA with an article that describes the current knowledge of Hemangiosarcoma and it was published in the January/February 2007 issue of The Courier — the Official Publication of the PWDCA, and the full text of this article is available at http://www.modianolab.org/cancer/cancer_hemangiosarcoma.shtml.

Dr. Modiano updated the state of research on HSA with another article in The Courier in 2014 entitled Recent Advances in Hemangiosarcoma Research– Light at the End of the Tunnel.

Information on how to submit a tissue sample: www.modianolab.org/studyInfo/documents/HSASamplesubmissioninfo.pdf. If your Portuguese Water Dog has been diagnosed with hemangiosarcoma, please visit Dr. Ostrander's lab site or contact Dana Mosher (study coordinator) by email. Blood samples to map genetic susceptibility in this breed can be submitted directly to the National Human Genome Research Institute at the NIH.

The PWDCA Board also approved funding via the AKC Canine Health Foundation in February 2017 to support a study by Dr. Jennifer A. Luff, VMD, PhD at North Carolina State University entitled “Investigating a Biomarker and Novel Therapeutic Target for Canine Diffuse and Large B Cell Lymphoma”.

Funding:

The PWDCA and its members continue to help fund important research projects with the hope of helping to finding some answers to the treatment and/or prevention of cancer in our dogs.

  • The Portuguese Water Dog Foundation, Inc. is involved in providing funds for cancer and other health research. Contributions to the Foundation are needed to help fund this research. To view the research grants that have been funded, go to the Foundation's website.
  • Tax-deductible donations to the AKC Canine Health Foundation Please use the two pull down menus–first, Donor Advised Funds and second, Portuguese Water Dog DAF. This allows the PWDCA to prioritize the research grant support on an annual basis.
  • Non tax-deductible donations may be made via the PWDCA Treasurer at any time to the Cancer Restricted Health Fund.

Other Important References

Here are some articles, books, research projects, and websites for additional information:

  • "Pets Living With Cancer: A Pet Owner’s Resource" by Robin Downing
  • Modiano Lab of the University of Minnesota. This site has quite a bit of useful information and links to other sites: www.modianolab.org
  • Information on how to submit samples for the Shine On Hemangiosarcoma detection study: Early Detection Target Hemangiosarcoma Cells In Dogs-Shine Project
  • The American Kennel Club’s Canine Health Foundation. For detailed information on active and completed research projects see their web site at www.akcchf.org
  • Guide to Internet Resources for Cancer--Cancer in Animals--Veterinary Oncology: http://www.cancerindex.org
  • American Veterinary Medical Association: www.avma.org
  • VetInfo-A Veterinary Information Service: www.vetinfo.com
  • Colorado State University—Researchers at the University are looking for dogs that have cancer to participate in a study to make chemotherapy more powerful. People interested in having their dog participate in the cancer drug trial should contact the Animal Cancer Center in Fort Collins at: www.csuanimalcancercenter.org
  • American Animal Hospital Association—2006 Vaccination Guidelines: www.aahanet.org

 

Read the "Thyroid Conditions" section below and visit the Resources Page.

Eye conditions are the focus of the Eye Committee. Current Chairs: Joan Bendure and Janet Boyd

Distichiasis

Eyelashes abnormally located in the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable, due to the high incidence in some breeds. Reducing the incidence is a goal. When diagnosed, Distichiasis should be recorded; breeding discretion is advised.

Cataracts

An opacity of the lens and or its capsule, which may affect one or both eyes and may involve the lens partially or completely. In cases where cataracts are complete and affect both eyes, blindness results. Surgery may be an option, but it is very expensive.

The prudent approach is to assume cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membranes, persistent hyaloid or nutritional deficiencies. The exact frequency and significance of cataracts in the breed is not known. Some cataracts have been diagnosed as young as eight weeks of age during a Companion Animal Eye Registry (CAER) examination.

Persistent Pupillary membranes

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur. The exact frequency and significance of this disorder in the breed is not known. This can be diagnosed by a CAER exam at eight weeks of age.

Prior to breeding a dog that had a diagnosis of a PPM on their 8 weeks exam, have your veterinary ophthalmologist examine the eyes prior to dilating the pupil. Small peripheral unresolved PPMs can be obscured in the dilated pupil.

Microphthalmia and multiple congenital ocular anomalies

This is a congenital abnormality present bilaterally and characterized by a small globe and associated ocular defects which can affect the cornea, anterior chamber, lens and/or retina. These associated defects may be variable in severity. Several cases have been identified, all of which appeared to have a common ancestry. All affected animals so far identified have been the progeny of dogs that were phenotypically normal, suggesting that the defect is not dominantly inherited. This can be diagnosed by a CAER exam at eight weeks of age.

Dogs with microphthalmia should not be used for breeding.

There is a syndrome commonly known as Microphthalmia Syndrome or MO. Signs of MO include microphthalmia along with other non-eye related conditions. A dog can have microphthalmia and not have MO. Further information on MO can be found below on the Neonatal and Pediatric Health tab.

Progressive Retinal Atrophy (PRA)

PRA is a group of inherited diseases that cause irreversible degeneration of the retina and eventually causes blindness.

PRA was first reported in the Portuguese Water Dog in 1990 in the form of prcd-PRA (progressive rod-cone degeneration). At that time the PWDCA and their members supported the research work of Dr. Gustavo Aguirre and Dr. Greg Acland and their associates at the University of Pennsylvania. Drs. Aguirre and Acland then moved to Cornell at the Baker Institute where most of the research on the prcd form of PRA was done. They identified the gene for prcd PRA which affects many different breeds and developed a test for the gene. OptiGen was started in 1998 and first started running a marker based test for prcd PRA as research continued at the Baker Institute to identify the mutation gene. The prcd PRA mutation gene was identified in 2005.

Dr. Aguirre returned to the University of Pennsylvania and continues his research and teaching. Dr. Acland retired from Cornell.

In the fall of 2012, a new form of PRA was reported in the breed and the club again contacted Dr. Aguirre to work on this new early form of PRA named EOPRA for (early onset PRA). Dr. Aguirre and Dr. Keiko Miyadera research has identified the gene causing EOPRA and developed a DNA mutation gene test to identify dogs that are either normal, carriers or affected. Both prcd-PRA and EOPRA are mutation gene tests. The current tests for prcd and early onset forms are available from Wisdom Health through their Optimal Selection panel. Please go to Optimal Selection for more information.

Frequently Asked Questions.

Normal/Clear, Carrier, and Affected are used to designate a dogs test results. Carrier and Affected dogs should only be bred to Normal/Clear to avoid producing PRA-affected puppies. Gene test results should not be used to determine if a dog should be used for breeding, or not used for breeding. For information on having a dog gene tested go to:Optimal Selection.

PRA Resource:

What the PWDCA is doing:

The PWDCA recommends that all dogs used for breeding have an annual CAER examination. A CAER exam is only good for one year and can only be done by a board certified ophthalmologist.

To truly have knowledge about the overall eye health of the breed, it is just as important to have regular eye exams for our companion/pet PWDs. For the companion/pet dogs that are older than 4 years old, if no symptoms of eye problems are noticed, an eye exam no less than every other year, recorded with an eye registry, until the PWD is at least 10 years old is recommended.

To avoid confusion, it is important to be aware of new changes that have occurred in regards to the American College of Veterinary Ophthalmologist (ACVO) and Canine Eye Registration Foundation (CERF). Effective November 1, 2012, the ACVO will no longer continue to be involved with CERF, and will transition affiliation to Orthopedic Foundation for Animals registry (OFA). This new registry is now called the OFA Companion Animal Eye Registry (CAER).

It is just as important to have as many apparently normal pet dogs evaluated as well so that we can identify the scope of the problem in our breed. As local CAER clinics arise, please encourage all PWD owners to get their PWDs in for an CAER exam. Please make sure the exam is recorded on the CAER form. This will ensure that the eye exam data reaches the database and is available for the researchers. A veterinary ophthalmologist can be found near you at the American College of Veterinary Ophthalmologists website: http://www.acvo.org and click on the blue "Help My Pet's Eyes" box.

Why the PWDCA is addressing this:

Most eye diseases are not widespread throughout the breed, but any disease that impairs a dogs sight can be devastating to the owner, particularly those that can cause blindness. For answers to questions about getting your dog eyes examined and living with a vision-impaired dog, read the Frequently Asked Questions.

Gastrointestinal conditions are under the umbrella of the Gastrointestinal & Megaesophagus Committee. Current Chair: Sharon Dudley-Brown

Inflammatory Bowel Disease (IBD)

Action taken by the PWDCA:

Currently, the cause of canine IBD is unknown, but is believed to have an autoimmune basis. Genetics, nutrition, infectious agents and abnormalities of the immune system can all be underlying factors. There are several forms of IBD, which are determined by the type of cell causing the inflammation. The most common is Lymphocytic-Plasmacytic, second most common is Eosinophilic, a rare form known as Regional Granulomatous, and Suppurative or Neutrophilic. Symptoms can include chronic diarrhea, vomiting, bloody stools, abdominal pain, and weight loss. There currently is no cure for IBD. However, strict diet changes and anti-inflammatory drugs will help in the control and stabilization of the dog. Early detection is of the utmost importance and can be very difficult because the symptoms can mimic other diseases. A positive diagnosis usually occurs after performing an endoscopy exam with biopsy.

Why the PWDCA is addressing this:

IBD can be life threatening or fatal if left unattended. In the past several years, there have been more cases of IBD diagnosed in the Portuguese Water Dog, then in prior years. There also may be a genetic connection to IBD.

How the PWDCA is dealing with this:

IBD can be life threatening or fatal if left unattended. In the past several years, there have been more cases of IBD diagnosed in the Portuguese Water Dog, then in prior years. There also may be a genetic connection to IBD.

Current Status (as of November 1, 2001):

Because of the Georgie Project findings with Addison's disease (another autoimmune disease), their scientists speculated that the same autoimmune gene might be implicated in IBD. Using the IBD database of the participating IBD dogs, they found that five of the IBD affected dogs were already part of the Georgie Project and had been genotyped. Examination of the DNA marker that identifies immune involvement in Addison's demonstrated that the allele marker associated with increased risk of Addison's was only present in one of these five dogs. The fact that the allele of the autoimmune marker was not found in the other four dogs led to the conclusion that this same immune gene could not be involved in both Addison's and IBD. Using blood samples submitted by other IBD dogs, they confirmed this conclusion.

However, there appeared to be another allele of this same DNA marker present in all five dogs already in the Georgie Project. Other data from the IBD database also pointed to this allele being involved in IBD. Because this allele of the DNA marker is much less frequent in the PWD population than the Addison allele, the Utah group hoped it could be used to screen for dogs at risk with IBD. Further genotyping of affected IBD dogs was necessary to confirm that this allele was indeed required for IBD. Unfortunately, results using DNA from the blood of additional IBD dogs (received during the last four weeks as a result of our committee's request) did not confirm the role of this new allele in IBD.

They are nevertheless convinced that there must be a genetic cause of IBD and are preparing to widen their search to include other possible genes. This research is very important to the future of our PWDs. To further the search for the other markers linked to IBD, our committee continues to work with the Georgie Project requesting participation of any newly diagnosed IBD dogs. Because of this new research, each participating IBD dog will be genotyped for all 500 of the available DNA markers.

Protein-losing Enteropathy (PLE)

PLE is the excessive loss of plasma and proteins into the gastrointestinal tract. This condition can be a result of damages to the GI tract mucosal lining. PLE may have an inherited component and the inheritance may be autosomal recessive. The symptoms of PLE are non-weight gain or loss of weight. The loss of protein into the bowel causes loss of fluid from the circulation into the limbs, the abdomen, or the chest. Therefore, the dog's legs and/or abdomen may appear swollen and the dog may have trouble breathing. Due to the loss of protein, fluid and fat into the bowel, the dog may have chronic persistent or intermittent diarrhea. The loss of protein from the kidney will also cause the dog to have increased urination and drinking. Laboratory tests and an intestinal biopsy are necessary to diagnose the specific cause. PLE cannot be cured, but it can generally be controlled through diet and medication

Why the PWDCA is addressing this:

Protein-losing Enteropathy (PLE) can be life threatening or fatal if left unattended. Given that the inheritance is thought to be autosomal recessive, parents (considered carriers) and siblings (suspect carriers) should not be used for breeding.

How the PWDCA is dealing with this:

The collection of information for future research and maintenance of the database is all that is currently being done for dogs diagnosed or suspected of having PLE.

Current Status:

There is no current status on PLE.

Other Important References - articles, books, websites:

The following web site has very informative articles on PLE:

Hemorrhagic Gastroenteritis (HGE)

An inflammatory disorder of the intestinal tract, HGE is characterized by hemorrhage and production of a "raspberry jam" appearance to the stool. Symptoms can be a sudden onset of vomiting, bloody diarrhea, rapid dehydration, and depression. Dogs affected by HGE get very sick, very fast. The exact cause of HGE is unknown, but Clostridium species bacteria may be part of the cause.

Why the PWDCA is addressing this:

HGE can be life threatening or fatal if left unattended.

How the PWDCA is dealing with this:

The collection of information and maintenance of the database is all that is currently being done for dogs diagnosed or suspected of having HGE.

Current Status:

There is no current status on HGE.

Other Important References - articles, books, websites:

Website with an article on HGE:VetInfo: HGE

 

Colitis

Canine colitis is an inflammation of the large bowel known as the colon. The inflammation may be acute or chronic, disrupting your dog's normal bowel habits. Acute colitis occurs most commonly in dogs and frequently responds to one to three weeks of therapy. Chronic colitis can go on for several years or perhaps a lifetime. Some dogs may have minor clinical signs; others have severe and sometimes disabling or fatal signs. Symptoms include diarrhea with small quantities of mucus and/or blood, frequent defecation, abdominal pain, depression, fever, weight loss, and a dull coat may also be present. Treatments vary depending on whether the colitis is acute or chronic. Among many of the tests to diagnose colitis are colonoscopy exam, fecal exam, and ultrasound.

Why the PWDCA is addressing this:

Colitis can be life threatening or fatal if left unattended.

How the PWDCA is dealing with this:

The collection of information and maintenance of the database is all that is currently being done for dogs diagnosed or suspected of having colitis.

Current Status:

There is no current status on colitis.

Other Important References - articles, books, websites:

The following web site has information regarding colitis:http://www.peteducation.com/article.cfm?c=2+2090&aid=249

 

Megaesophagus

Megaesophagus is a condition where there is dilation of the esophagus due to a loss of normal peristaltic function. Peristalsis is the process by which waves of muscular contraction move along the contents (food in this case) of tubular organs. Animals with megaesophagus regurgitate undigested food shortly after eating. Dogs may be born with megaesophagus or they may develop it later in life. It is commonly seen with other disorders such as myasthenia gravis and peripheral neuropathies. Although it may not be noticed until young adulthood, megaesophagus is usually first recognized in puppies around the time of weaning. Affected pups regurgitate food, fail to thrive, and may develop respiratory difficulties associated with aspiration pneumonia due to inhalation of food particles. Signs include labored breathing, fever and lethargy, and nasal discharge. Regurgitation of undigested food shortly after eating is the main sign of Megaesophagus. Veterinarians will take chest x-rays to determine if your dog has this disorder, and will perform other laboratory tests since there are several conditions that may be associated with megaesophagus. Since megaesophagus may be associated with many different conditions, the diagnostic work-up should include CBC, biochemical profile, urinalysis and survey thoracic radiographs in all cases. If an underlying cause can be identified, treatment may improve esophageal function. There is no specific treatment for the megaesophagus itself, but it can usually be managed by feeding small, frequent, high-caloric meals from an elevated location so that gravity assists the passage of food. Different consistencies of foods can be tried to determine which causes the least regurgitation. Some dogs appear to gradually outgrow this condition within a year or so, while in others there is no improvement and feeding management is required for life. Treatment of this nature should be prescribed by your veterinarian, who will also discuss the possible complications that you must watch for, the most serious of which is aspiration pneumonia. Mode of inheritance for the PWD has not been determined. However, this is an autosomal recessive trait (carriers) in the wire-haired Fox Terrier, and autosomal dominant (suspect carriers) in the Miniature Schnauzer. It is advised that affected dogs of these breeds not be bred. In other breeds in which inheritance is unknown, it is safest to avoid breeding affected dogs, their parents and siblings.

(This information is from the Canine Inherited Disorders Database. This database is a joint initiative of the Sir James Dunn Animal Welfare Centre at the Atlantic Veterinary College, University of Prince Edward Island, and the Canadian Veterinary Medical Association.)

Why the PWDCA is addressing this:

Megaesophagus can be life threatening or fatal if left unattended.

How the PWDCA is dealing with this

The collection of information and maintenance of the database is all that is currently being done for dogs diagnosed or suspected of having megaesophagus.

Current Status

There is no current status on megaesophagus.

GM-1 Committee Current Chair: Kathy Ferrandino

Overview

GM1 Gangliosidosis is a recessive genetic disorder which can be found in both humans and Portuguese Water Dogs. GM1 Gangliosidosis is fatal to affected puppies. Affected puppies are produced by breeding a “Carrier” to a “Carrier”. Dogs who are tested and found to be either “Normal” (non-carrier) or “Carrier” will have a normal life expectancy.

Action Taken by the PWDCA

The PWDCA sponsored testing and research at the Neurogenetics Laboratory of New York University to find the genetic mutation responsible for GM1 Gangliosidosis in Portuguese Water Dogs. A DNA test was subsequently developed and has been in use since September 1999. The test results indicate if a dog is “Normal” (non-carrier) or “Carrier” for the genetic mutation that results in GM1 Gangliosidosis. Prior to the DNA test being available a blood assay rating was issued with a 95 to 99 percent accuracy rate in determining if a dog was a carrier of GM1 Gangliosidosis. The DNA test is 100 percent accurate.

Recommendations

The PWDCA recommendations regarding GM1 Gangliosidosis are that at least one of a breeding pair, either the sire or dam, be tested and found to be “Normal” (non-carrier) or Cleared by Parentage (CBP) via DNA analysis prior to the breeding taking place.

The testing information and a list of acceptable testing facilities can be found at Health Tests - Forms and Information.

Committee Co-Chairs: Carol Mattingley and Maryanne Murray

The PWDCA Heart Committee is concerned with any health condition involving the heart and circulatory system of PWD's. Heart murmurs, congestive heart failure, Tetralogy of Fallot, Pulmonic Stenosis, and Patent Ductus Arteriosus are among the conditions reported to the committee. Juvenile Dilated Cardiomyopathy, JDCM, is a deadly disease found in the breed. It is recessively inherited and causes sudden death in puppies between the ages of five weeks and seven months. Fortunately, this disease no longer presents a challenge for breeders.

In October, 2007, a JDCM Linked Marker Test, to ascertain the JDCM genetic status of our dogs, was developed by researchers at the University of Pennsylvania. Test results were reported for individual dogs as 1-1 Probable Normal (did not carry the marker), 1-2 Probable Carrier (probably did carry the marker, and 2-2 Probable Affected (had the disease).

In September, 2010, these same researchers at the U of PA found the actual gene mutation associated with JDCM and developed a DNA gene based test to determine normal and carrier Portuguese Water Dogs. By having their breeding stock DNA tested, breeders can avoid producing affected puppies by identifying the normals and the carriers. The only way to produce a puppy that would die from the disease would be to breed two carriers together.

The Heart Committee strongly recommends that one of a breeding pair, either the sire or dam, be DNA tested as Normal. This means that a Carrier can be bred – but only to a Normal. The recessive nature of the disease precludes breeding two carriers together as 25% of the litter would be affected with JDCM, thus producing puppies which will die.

The JDCM Test is available through PennGen Laboratories: http://research.vet.upenn.edu/PennGen.

Action Taken By The PWDCA

The PWDCA is fortunate to have the financial assistance of the Portuguese Water Dog Foundation, in supporting research projects, especially the one which dealt with JDCM. Drs. Meg Sleeper and Paula Henthorn at the University of Pennsylvania are the researchers who developed the Linked Marker Test and then the DNA gene test. Dr. Sleeper is also looking into cases of Pulmonic Stenosis.

The PWDCA and the Portuguese Water Dog Foundation continue to raise funds to support the research projects. The PWDCA Heart Committee continues to provide educational material on heart-related problems through the club's magazine, The Courier. Two 2003 issues provide a complete explanation of JDCM and a visual pedigree showing the progression of the gene through a typical pedigree. Refer to May/June 2003, pages 24-25 July/August 2003, page 34.

Recommendations

Please report all instances of heart conditions in any age Portuguese Water Dog to the PWDCA Heart Committee.

In the event of the sudden, unexplained death of a young Portuguese Water Dog, a correct diagnosis is imperative. Please contact a member of the Heart Committee immediately.

Committee Chair: Julie Asbed

The Neurological Disorders Committee, although primarily focused on seizure disorders, also collects information on other neurological conditions.

Types of Neurological Disorders

  • Autoimmune disease affecting the brain and/or spinal cord
  • Infection of the brain and/or spinal cord
  • Inflammation of one or more components of the central nervous system
  • Seizures
  • Degenerative disc disease
  • Stroke
  • Tumors

Some Common signs

  • Circling
  • Disorientation
  • Head pressing
  • Paralysis or weakness of one or more limbs
  • Pain without apparent cause
  • Seizures
  • Balance issues
  • Vision issues
  • Behavior changes

Canine Epilepsy

  • CE affects approximately 0.75% of the population and it is the most common neurological disorder seen in dogs.
  • Seizures are classified into two basic types
  • 1.Generalized are characterized by clinical signs bilaterally.
  • 2.Focal affect a single side or specific part of the body.
  • Epilepsy types
  • Idiopathic has no identifiable structural cause and is assumed genetic
  • Structural occurs because of damage or malformations of the brain
  • Reactive seizures occur in response to particular stimuli like a toxin
  • Heritable epilepsy has been shown in at least 26 breeds

How the PWDCA is addressing CE:

We are collecting data and assembling pedigrees of seizure affected dogs to gather information regarding heritability. We hope to increase breeder awareness of CE. Possibly, in the future, our data could be used by researchers to tell us more about CE in our breed.

How can you help?

Fill out one of our questionnaires on any PWD, living or dead, you’ve owned or produced affected by seizures. We are also gathering data on other Neurological Disorders. All information is confidential upon request.

PWDCA Contacts: Julie Asbed, Chairperson or Amy Gilroy, member

Committee Chair: Carol Mattingley

Please see the information about the importance of necropsies on any lost neonatal or pediatric puppies. Please review and print the simple necropsy checklist to be available at your time of need.

Some of the neonatal and pediatric conditions currently being monitored by the Neonatal and Pediatric Committee include:

Microphthalmia Syndrome (MO)

Microphthalmia (previously known as Puppy Eye Syndrome, and now referred to as “MO”) is a syndrome presenting with multiple signs, including more body systems than the eyes, and has been reported in the Portuguese Water Dog dating back more than 20 years. The mode of inheritance is currently unknown. This syndrome is present at birth. Commonly, neonates present as “failure to thrive” and breeders may be unaware of this condition as the cause unless stillborn and “failure to thrive” puppies that do not survive have a post mortem exam (necropsy) performed. Affected puppies that survive past weaning typically have a shortened life span with a variety of health problems reported.

This syndrome exhibits eye-related conditions which are best diagnosed by a veterinary ophthalmologist after the puppy is seven weeks of age or by necropsy done at Cornell. In addition to these eye conditions, these neonates or pediatric puppies may exhibit one or more of the following signs:

  1. “Failure to Thrive” – These pups have been reported to have either normal or less than normal birth weights. Some are weak, poor nursers, and fail to gain weight. They may not grow at the same rate as their littermates and may require hand feeding. Because of this, they are more likely to develop aspirational pneumonia.
  2. Puppies may appear normal until 3-4 weeks of age, at which time they may seem clumsier and get lost easily, often due to vision problems.
  3. Puppies may have difficulties transitioning from nursing to solids. Once eating, they may gorge themselves and make unusual vocalizations (chirp) while eating.
  4. Puppies may exhibit weakness in rear legs and difficulty walking and some puppies may be unable to control urination (incontinence).
  5. Affected puppies often have low platelet counts, or thrombocytopenia. Platelets are involved in the ability of the body to stop or prevent bleeding by the formation of blood clots. Dysfunction or low levels of platelets predisposes to bleeding which has been reported in affected puppies.
  6. Eyes may appear smaller than normal (micropthalmic) or in some cases may appear swollen and larger than normal.

Eye conditions associated with this syndrome are best diagnosed by a veterinary ophthalmologist, which can be done as early as eight weeks of age. Reported eye conditions include:

  1. Microphthalmia – compared to other pups in the litter these pups will have small eyes.
  2. Glaucoma – abnormal eye pressure – these pups are often very fussy due to the discomfort associated with this condition and they may have bulging eyes (Please note that this should not be confused with neonatal conjunctivitis (Ophthalmia neonatorum) which is a treatable infection that occurs prior to eye opening in neonatal puppies). This is why it is important for veterinary evaluation of any neonatal or pediatric PWD with an eye problem.
  3. Cataracts
  4. Other eye anomalies such as anterior segment dysgenesis, persitant puppilary membranes, lack of pupils or complete absence of eye parts. Some of these findings may be seen only on post-mortem pathology.

If you suspect a pup in your litter has this syndrome, please contact the Chair of the Neonatal Committee. Research for the mutated gene has been funded by the PWDCA and the PWDF and is currently underway at the University of Pennsylvania (UPENN). Necropsies are currently being done for this research at Cornell. Please send euthanized or suspicious puppy deaths for necropsy (autopsy or post-mortem examination) to Cornell. It is also highly recommended to have a board-certified veterinary opthalmology evaluations of the litters before placing puppies in their new homes as some inherited eye diseases, including Microphthalmia Syndrome (MO), can be detected at an early age.

Lymphedema

is an abnormal accumulation of lymph which is derived from the fluid between the cells of the body. Puppies severely affected with this condition have also been described as “walrus puppies,” “water puppies,” or anasarca, which is a term used to describe severe, generalized edema. More mild cases typically involve one or more legs, most commonly the hind legs. The swelling starts near the toes and moves towards the body. When depressing the skin with your finger it will cause an indentation that will remain for some time after the release of the pressure (pitting edema). In severe cases, swelling is generalized over the entire body (anasarca), a form that is often fatal shortly after birth and a condition that commonly result in a need for an emergency C-section due to difficult in passing through the birth canal.

Lymphedema has been reported in the scientific literature to occur in a variety of species including humans, horses, pigs, cows, cats, and dogs, with a variety of breeds reported such as Bulldogs, Poodles, and Labrador Retrievers. In other species, this has also been referred to as “hydrops”.

The diagnosis of primary congenital lymphedema is based on clinical signs and veterinary evaluation. The diagnosis is often made based on characteristic clinical signs and presentation. Skin biopsies can assist with confirmation of the excessive fluid accumulation; however, the anomaly in the lymphatic system cannot be identified with a skin biopsy alone. Diagnostic tools to further evaluate the lymphatic system such as contrast lymphangiography have been performed in a small numbers of dogs with lymphedema but are not readily available. Lymphoscintigraphy, magnetic resonance imaging (MRI), computerized tomography (CT), and doppler ultrasound are also additional diagnostics that have been reported to evaluate the lymphatic system of patients with lymphedema, however, these are most commonly utilized in humans rather that veterinary patients with this disorder.

Primary lymphedema was noted to occur in a family of Poodles and was studied by researchers at the University of Pennsylvania in the 1960s. In that study, primary lymphedema was reported to be inherited as an autosomal dominant disease with variable expressivity (incomplete penetrance) in that family of Poodles. The disorder has been reported in the veterinary literature to be an inherited disease in a variety of dog breeds with suspected autosomal dominant with incomplete penetrance as well as autosomal recessive modes of inheritance. However, in most other dog breeds where this disorder has been described, the exact mode of inheritance has not been thoroughly evaluated. Several candidate genes have been identified in humans as well as other species where inherited primary lymphedema has been described; however, there are no current ongoing research projects involving this condition in dogs.

The difficulty with lymphedema in the dog is that there can be variable expression of the disorder in affected animals in both the severity of clinical signs as well as the age of onset, so that some affected dogs may be easily be overlooked. In some cases, signs of edema may be so mild and improve with age that a puppy is not noticed to be affected with the condition and may unknowingly enter a breeding program. It is important for Portuguese Water Dog breeders and owners to be informed about this disorder. Any puppy or adult Portuguese Water Dog that is suspected to be affected with lymphedema should be evaluated by a veterinarian familiar with this disease in an effort to appropriately identify affected animals. Additional examination of relatives of suspected affected animals is also important to better characterize this disease so that care can be taken to avoid perpetuation of the inherited form of this disorder in the gene pool.

PWD owners and breeders who have a dog diagnosed with lymphedema (or relative) are encouraged to contact the PWD Pediatric and Neonatal Health Committee as well as consider submission of DNA to the Canine Health Information Center’s DNA Repository (www.caninehealthinfo.org/dnabank.html) for potential use in future research.

Why PWDCA is addressing this

Both Microphthalmia Syndrome (MO) and Lymphedema affect the lifespan and quality of life of Portuguese Water Dogs.

Recommendations

Please see the information about the importance of necropsies (PDF File) (post mortem examinations) on any lost neonatal or pediatric puppy and please contact the chair of this committee is you suspect a pup in your litter may be affected with a health condition.

Committee Chair: Cheryl Hoofnagle

Although individual Portuguese Water Dogs can be afflicted with various orthopedic problems, the primary disease condition affecting the breed is CHD, or Canine Hip Dysplasia. CHD is a common canine inherited condition, not apparent at birth, in which there is irregular development of the hip joint as the dog grows. This results in a poorly fitting ball and socket which tends to develop degenerative joint disease over time. CHD is a complex disease and it is believed that several genes are probably responsible. None of these have yet been identified and the only way to diagnose the disease is by examining radiographs of the hip joints. Many researchers believe the main contributors to hip dysplasia are joint laxity (or looseness) and a shallow acetabulum (or socket). Environmental influences can affect the expression of the disease. There can be a wide range of outcomes for the dog afflicted with CHD: some diagnosed by routine radiographs live normal lives and never develop clinical symptoms, where others are so uncomfortable or incapacitated that they require surgery. There are a number of things owners can do to help the PWD with CHD live as comfortably as possible. These include keeping weight off, regular moderate exercise, medical management, and in some cases surgery. Appropriate supplements, physical therapy, and alternative therapies may also be useful in supportive care for the dysplastic dog. All cases need to be looked at on an individual basis.

Action taken by the PWDCA

The Orthopedic Committee monitors issues, studies, therapies, and databases relating to the orthopedic health of the PWD and reports to the PWDCA membership. The Orthopedic Committee is also available to provide support and information to all PWD owners with questions or concerns about their dogs.

Why the PWDCA is addressing this

Portuguese Water Dogs affected with CHD can face a future of discomfort or pain due to the debilitating effects of osteoarthritic changes to their joints. Earlier identification of animals with the disease could allow owners make environmental changes that might reduce the amount of long-term damage. Identification of treatments and therapies to help PWDs with CHD live more comfortable and functional lives is beneficial to both dogs and their owners. Identification of the genes responsible would allow breeders to make decisions that could reduce the overall incidence of the disease.

How the PWDCA is Addressing This

Until there are DNA tests available to identify the genes responsible for CHD, the breeder's best means to decrease its incidence is to breed phenotypically normal dogs (i.e. Dogs evaluated as "normal" by OFA certification at 24+ months of age). Although dogs appearing to have normal hips can produce offspring with CHD, they are less likely to than dogs that are themselves afflicted with CHD. According to a recent OFA study, there is a positive and significant relationship between the hip status of the parents and offspring. The PWDCA recommends that all PWDs used for breeding have hip radiographs screened by the OFA. Many responsible breeders also have their breeding animals screened for elbow dysplasia, a condition that is less common but does occur in the breed.

An additional method of evaluating hip status with regard to laxity is offered by PennHIP. PennHIP requires a series of 3 radiographs and compares them to identify the laxity present in each hip joint when stressed to approximate normal use. This laxity measurement is provided to the PWD owner both as an absolute value and ranked in relation to all the PWDs in their database. According to their research, tighter-hipped parents tend to produce tighter-hipped offspring who will be less likely to develop CHD.

Other Important References - articles, books, websites

Please visit Resources page

Thyroid conditions are under the umbrella of the Endocrine Committee. Committee Chair: Cheryl Hoofnagle

Hypothyroidism is the most common endocrine disorder of canines, and up to 80% of cases result from autoimmune thyroiditis. The heritable nature of this disorder poses significant genetic implications for breeding stock.

Why the PWDCA is addressing this:

In 2005 the PWDCA health survey reported that 47% of members had concerns about behavior and temperament which can be associated with hypothyroidism.

What the PWDCA is doing:

The committee provides information and support regarding thyroid disorders. The Thyroid Committee has also collected and stored information for the express purpose of research.

What causes hypothyroidism:

Hypothyroidism results from impaired production and secretion of thyroid hormones. The production of thyroid hormones is influenced by the pituitary gland, the hypothalamus, and the thyroid gland.

Who gets hypothyroidism:

The disorder usually affects mid to large size dogs and is rare in toy and miniature breeds of dogs. Hypothyroidism most commonly develops in middle aged dogs between ages 4 – 10 years.

What are the symptoms:

  • Lethargy
  • Mental dullness
  • Exercise intolerance
  • Neurologic signs
  • Seizures
  • Polyneuropathy
  • Dry scaly skin and dandruff
  • Coarse, dull coat
  • Changes in Temperament
  • Infertility
  • Absence of heat cycles
  • Testicular atrophy
  • Weight Gain or Weight Loss
  • Cold intolerance
  • Mood Swings, aggression
  • Hyperexcitability
  • Stunted Growth
  • Chronic Infections
  • Chronic offensive skin odor
  • Bilaterally symmetrical hair loss
  • Seborrhea with greasy skin
  • Prolonged interestrus interval
  • Silent heats
  • Lack of libido

How is hypothyroidism diagnosed:

A complete baseline thyroid profile would include total T4, total T3, free T4, free T3, and TGAA (thyroglobulin autoantibody). It can also include T3 autoantibody or T4 autoantibody as well as thyroid stimulating hormone TSH.

Other Important References:

“The Canine Thyroid Epidemic”, by W. Jean Dodds DVM, and Diana R. Laverdure