HEALTHY and GENETIC


The Portuguese water dog is generally a very healthy breed. However, similar as in other breeds, some diseases can occur. If you plan to buy a puppy, I suggest you choose a breeder, who tests their dogs, not only for diseases that are necessary for breeding. In the Czech Republic the stud dogs require the following criteria:

Hip dysplasia - HD

It is a genetically conditioned incorrect development of the hip joint. It is a hereditary disease that is affected by environmental factors. The incidence is affected by height, weight and growth rate. Risk is 50 times higher in giant and 20 times higher in large breeds than in the small and middle breeds. If both parents are affected by a disability, the offspring have 80% probability to be affected also.

Hip dysplasia grading according to FCI system:

A - no signs of hip dysplasia

B - near normal hip joints

C - mild hip dysplasia

D - moderate hip dysplasia

E - severe hip dysplasia

Genetic test: 

Progressive rod-cone degeneration - PRA-prcd

The progressive rod-cone degeneration (PRA-prcd) is caused by a mutation in PRCD gene. The PRCD gene affects mainly the retina with the same expression level in retinal pigment epithelium, photoreceptor cells and in the ganglion cells. The mutation results in structural and functional changes. The onset of the disease is in adolescence or in early adulthood, and the affected dogs will develop night blindness, over time the disease continues with cone degeneration and progresses to complete blindness.

PRA-prcd is inherited by recessive mutation and shows only in individuals who inherit the mutation from both parents (recessive homozygotes). Heterozygote carriers are clinically healthy, but if you breed two of them, the puppies may inherit two mutated alleles, 25% of puppies in theory. But the disorder may also arise as a mutation in existing cells during the dog´s life. It would be more appropriate to test a dog multiple times, which is considerably expensive, therefore, we recommend that an eye examination by a veterinary ophthalmologist is performed every year.

In the Czech Republic there are specialists in veterinary ophthalmology, for example MVDr. Jiří Beránek, Ph.D. -- www.veterina-pce.cz

This genetic test is in the Czech Republic, but must go through a partner in Slovakia because of patent protection. It can be mediated by laboratory Genomia. You can find the actual price list and all information here:  https://www.genomia.cz/cz/test/pra-prcd/

 

In addition, I think it is very important to monitor even other genetically inherited diseases. I mean, if you're adopting a Portuguese water dog puppy, I would consider the other genetic tests as a benefit, which can save you from disappointment in the future.

Juvenile Dilated Cardiomyopathy - JDCM

This serious disease is also likely genetically detectable with high probability. Even though the test is still in the results testing phase, it is still beneficial to know if your dog "probably" has this disease. This genetic test is only performed in one laboratory in the United States and is currently widely used throughout the world. 

The disease probably causes the mutation, which is inherited by a recessive gene mutation and therefore is more likely to only manifest in individuals who inherit a mutation from both parents (2 - 2). Subjects in which the mutation is not detected (1 - 1) are likely to be clinically healthy. The disease manifests in very early "puppy" age, and very quickly leads to heart failure.

Contact to genetics lab in the US (for the data needed to test, you must first register and create an account):

https://www.vet.upenn.edu/research/academic-departments/clinical-sciences-advanced-medicine/research-labs-centers/penngen/penngen-tests

Shipping of genetic samples to the United States by the applicable legislation, is not subject to declare and wrapped according to instruction from the laboratory you can send a sample by post (I recommend using a better shipping company). In addition, it shall contain a statement from your veterinarian, that the animal was healthy at the time of sampling, of course in the English language. It is better to add a transparent cover to the envelope containing all the documents, including a clear description of what is contained in it.

Gangliosidosis - GM1

Gangiliosidosis is a severe inherited storage disease of dogs characterized by neurological symptoms. The GM1 in Portuguese water dogs is caused by a mutation in the GLB1 gene and it is an autosomal recessive disorder. The disease affects dogs with P/P (positive / positive) genotype only. Dogs with P/N (positive /negative) genotype are clinically without any symptoms. They are genetically considered carriers of the disease (heterozygotes). In offspring of two heterozygous animals the following genotype distribution can be expected: 25 % N/N (healthy non-carriers), 25 % P/P (affected), and 50 % P/N (healthy carriers). Because of high risk of producing affected offspring, mating of two P/N animals (carriers) cannot be recommended. 

The disease causes an unbalanced growth and progressive neurological degradation due to the malfunction of the little brain. The dog will experience a gradual loss of coordination, muscle trembling and ataxia. Sight could be affected too. The first clinical signs become apparent from 5-6 months of age.

This genetic test is in the Czech Republic and is offered by laboratory Genomia. Actual price list and all other information can be found here:  https://www.genomia.cz/cz/test/gm1/

Improper coat - IC

The RSPO2 gene causes Portuguese Water Dogs to have non-standard hair. The disease is inherited through an autosomal recessive trait, which means this will develop only in individuals who inherit the wild-type (wt) allele from both parents and are homozygous for this allele. Heterozygous dogs (with one allele of wild -type and one inserted allele) will only be carriers of phenotype symptoms of IC. Individuals with both inserted alleles have standard hair. 

This genetic test is in the Czech Republic and is offered by laboratory Genomia. Actual price list and all other information can be found here: https://www.genomia.cz/cz/test/ic/