Entlebucher Mountain Dog Breed Health Issues

The OptiGen prcd-PRA Test
The OptiGen prcd-PRA test is a DNA-based test that helps you avoid one form of Progressive Retinal Atrophy (PRA). PRA refers to a group of diseases that cause the retina of the eye to degenerate slowly over time. The result is declining vision and eventual blindness. “prcd” stands for “progressive rod-cone degeneration” which is the type of PRA known in several breeds.

Genetic Registries – genetic registries have been established for several breeds. For these breeds results are shared with OFA, CERF or with a breed designated registry.  We have noted below with an asterisk which breeds are included. This policy applies only to those registries that are in effect at the time the test is requested.
Breed specific information:

Reliable identification of dogs that do not carry disease genes is the key to eliminating inherited recessive diseases, like prcd-PRA. The OptiGen prcd test for Entlebucher Mountain Dogs provides almost 100% identification of these dogs. Called "genetically clear", "noncarriers" or, more formally, "homozygous normals," such dogs pass the normal gene on to all their pups with a very high probability - which means that their pups have a very low risk of being affected with prcd. These "clear" dogs can be bred to any mate - even to a prcd-affected dog that may be a desirable breeding prospect for other reasons.

Homozygous means both copies of the gene in your dog are the SAME - both normal or both prcd. A carrier has one normal and one prcd gene. The OptiGen prcd test is done on a small sample of blood from the dog. The test analyzes the specific DNA mutation causing prcd-PRA. The OptiGen test detects the mutant, abnormal gene copy and the normal gene copy. The result of the test is a genotype and allows separation of dogs into three groups: Normal/Clear (homozygous normal), Carrier (heterozygous) and Affected (homozygous mutant).

PRA Disease
The genetic disorder, prcd-PRA , causes cells in the retina at the back of the eye to degenerate and die, even though the cells seem to  develop normally early in life. The “rod” cells operate in low light levels and are the first to lose normal function. Night blindness results. Then the “cone” cells gradually lose their normal function in full light situations. Most affected dogs will eventually be blind. Typically, the clinical disease is recognized first in early adolescence or early adulthood. Since age at onset of disease varies among breeds, you should read specific information for your dog. Diagnosis of retinal disease can be difficult. Conditions that seem to be prcd-PRA might instead be another disease and might not be inherited. OptiGen’s genetic test assists in making the diagnosis. It’s important to remember that not all retinal disease is PRA and not all PRA is the prcd form of PRA. Annual eye exams by a veterinary ophthalmologist will build a history of eye health that will help to diagnose disease.
Unfortunately, at this time there is no treatment or cure for PRA. If your dog is affected, you may find it helpful to read about other owners’ experiences living with blind dogs. (suggested links:www.eyevet.org and www.blinddogs.com)
Inheritance

Prcd-PRA is inherited as a recessive trait. This means a disease gene must be inherited from each parent in order to cause disease in an offspring. Parents were either “carrier” or affected. A carrier has one disease gene and one normal gene, and is termed “heterozygous” for the disease. A normal dog has no disease gene and is termed “homozygous normal” – both copies of the gene are the same. And a dog with two disease genes is termed “homozygous affected” – both copies of the gene are abnormal.

It’s been proven that all breeds being tested for prcd-PRA have the same disease caused by the same mutated gene. This is so, even though the disease might develop at different ages or with differing severity from one breed to another.

Although prcd-PRA is inherited, it can be avoided in future generations by testing dogs before breeding. Identification of dogs that do not carry disease genes is the key. These "clear" dogs can be bred to any mate - even to a prcd-affected dog which may be a desirable breeding prospect for other reasons. The chance of producing affected pups from such breedings depends on the certainty of test results. Again, you’ll find the specific information on certainty of test results for your dog by linking to breed specific information.

The Genetic Test
The OptiGen prcd test is done on a small sample of blood from the dog. The test analyzes the specific DNA mutation causing prcd-PRA. The OptiGen test detects the mutant, abnormal gene copy and the normal gene copy. The result of the test is a genotype and allows separation of dogs into three groups: Normal/Clear (homozygous normal), Carrier (heterozygous) and Affected (homozygous mutant).


PENNHIP
What is PennHIP?
PennHIP stands for the University of Pennsylvania Hip Improvement Program.
PennHIP is a multifaceted radiographic technology (x-ray) for hip evaluation. The technique assesses the quality of the canine hip and quantitatively measures canine hip joint laxity. The PennHIP method of evaluation is more accurate than the current standard in its ability to predict the onset of osteoarthritis. Osteoarthritis, also known as degenerative joint disease (DJD), is the hallmark of canine hip dysplasia (CHD).
PennHIP is more than just a radiographic technique. It is also a network of veterinarians trained to perform the PennHIP methodology properly and, perhaps most importantly, it is a large scientific database that houses the PennHIP data. The radiographs are made by certified PennHIP members worldwide and are sent to the PennHIP analysis center for evaluation. The resulting data is stored in the database, which is continually monitored as it expands. As more information becomes available, the PennHIP laboratory is able to obtain more precise answers to questions about the etiology (cause), prediction and genetic basis of CHD.

The PennHIP laboratory publishes its findings in scientific journals. Published information is disseminated to all PennHIP members; it is also shared with interested breed clubs and routinely appears in publications within the dog fancy.

To summarize, PennHIP is composed of three major components
• A diagnostic radiographic technique
• A network of trained veterinarians
• A medical database for scientific analysis

A Brief History
In 1983, Dr. Gail Smith from the University of Pennsylvania School of Veterinary Medicine conceived and developed a new scientific method for the early diagnosis of CHD. Research conducted in his laboratory proved the diagnostic method to be capable of estimating the susceptibility for CHD in dogs as young as sixteen weeks of age. In 1993, Dr. Smith established PennHIP, a cooperative scientific initiative, to serve as a multi-center clinical trial of the new hip dysplasia diagnostic technology. The program was successful and quickly grew beyond the capacity and purpose of a university research laboratory. Initially, the University of Pennsylvania licensed PennHIP to outside biotech companies in order to make the technology available for widespread public use and to allow Dr. Smith and his colleagues to continue their research at the School of Veterinary Medicine. PennHIP has recently been reacquired by the University of Pennsylvania and is now a not-for-profit organization.

PennHIP Radiographic Evaluation at a Glance
The PennHIP method is a different way to assess, measure and interpret hip joint laxity. It consists of three separate radiographs: the distraction view, the compression view and the hip-extended view (see below). The distraction view and compression view, developed by Dr. Smith, are used to obtain accurate and precise measurements of joint laxity and congruity. The hip-extended view is used to obtain supplementary information regarding the existence of DJD in the hip joint.

Distraction View
Compression View
Hip-extended View

On average the distraction view has been shown to reveal 2.5 - 11 times more hip laxity (depending on breed) than the hip-extended view. Also the PennHIP method can measure the laxity of a hip joint with greater precision than the hip-extended method. The degree of hip joint laxity, as measured by the PennHIP method, has been shown to be the most important risk factor in determining whether a dog is prone to developing CHD.


CERF

WHAT IS CERF?
The Canine Eye Registration Foundation (CERF) is an organization that was founded by a group of concerned, purebred owner/breeders who recognized that the quality of their dog's lives were being affected by heritable eye disease. CERF was then established in conjunction with cooperating, board certified, veterinary ophthalmologists, as a means to accomplish the goal of elimination of heritable eye disease in all purebred dogs by forming a centralized, national registry.

The CERF Registry not only registers those dog's certified free of heritable eye disease by members of the American College of Veterinary Ophthalmologists (A.C.V.O. ), but also collects data on all dogs examined by A.C.V.O. Diplomates. This data is used to form the CERF data base which is useful in researching trends in eye disease and breed susceptibility. Not only is this data useful to clinicians and students of ophthalmology, but to interested breed clubs and individual breeders and owners of specific breeds.

HOW DOES CERF WORK?
After the painless examination of the dogs eyes, the A.C.V.O. Diplomate will complete the CERF form and indicate any specific disease(s) found. Breeding advice will be offered based on guidelines established for that particular breed by the genetics Committee of the A.C.V.O. Bear in mind that CERF and the A.C.V.O. are separate, but cooperating entities. The A.C.V.O only provides their professional services and expertise to ensure that uniform standards are upheld for the certification of dog's eyes with the CERF organization.

If the dog is certified to be free of heritable eye disease, you can then send in the completed owner's copy of the CERF form with the appropriate fee ($10.50 for the original CERF Registration, or $8.00 if it is a recertification). CERF has adopted a policy effective Jan. 1st, 2001 (by post mark) that a permanent identification in the form of microchip, tattoo or DNA profile will be needed for any dog to be registered with CERF. The certification is good for 12 months from the date of the exam and afterwards the dog must be reexamined and recertified to maintain its' registration with CERF.

Regardless of the outcome of the dog's exam, the research copy of the CERF form will be sent to the CERF office at V.M.D.B (Veterinary Medical Database) where its information will be entered into the database for that specific breed. This information will be used in generating research reports, but the individual dog's identities will become confidential and will never be released.

WHAT CAN CERF DO FOR ME?
- Provide a registry of purebred dogs that have been certified free of heritable eye disease.
- Provide various memberships which include the CERF Newsletter, and various registration and research reports to keep you up-to-date on various topics in canine ophthalmology.
- Provide various reports on the prevalence of eye diseases in certain breeds, including reports generated by the Veterinary Medical Data Base (V.M.D.B.) which compiles data from 24 participating veterinary colleges in the U.S. and Canada.
- Provide a centralized source to answer questions like: - "Is there an A.C.V.O. Diplomate located near me?" -"Are there any published materials on eye disease in dogs that can help me to better understand my dog's condition?"
If you are interested in learning more about the CERF organization, the CERF process, or would like to inquire about the CERF status of a prospective mate for your dog, please don't hesitate to call or write. We'd love to assist you!


EUS (Entlebucher Urinary Syndrone)

Little is known or published about EUS. It effects a very small number of Entlebuchers, mostly males. It often does not have any warning symptons, and puppies with EUS often lead normal lives without EUS being diagnosed. Rare cases may require surgery to correct. EUS is characterized by abnormalities in the urinary tract which can include ureteral ectopia, uterial obstruction, hydroureter, and hydronephrosis. Ureteral ectopia is the least sever of these abnormalities and is common in many canine breeds.

Signs of EUS are usually evident early in a Entles life. Signs may include:

  • drinking abnormally large quantities of water
  • accidental urine leakage, possibly when asleep or tired
  • persistant bladder infections that don't respond well to antibiotic
  • a symptom taht requires immediate attention is sudden onset of vomiting
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