Sun Border

Patologie Ereditarie 

Sempre dal sito di Anadune alcune patologie ereditare per le quali è importante eseguire gli esami di controllo.

Hip Scores

   Hip dysplasia refers to an ill fitting hip. The hip is a ball and socket joint. The deeper the socket, the better fit of the femoral head and angle of the neck. The tighter the ligaments, the better the hip. Hip dysplasia is genetically transmitted, although environmental factors may also affect its degree.

   In Britain, the British Veterinary Association (BVA) offer screening for hip dysplasia. An X-ray is taken of the dog's hips, which is passed onto the BVA. The BVA appoints two scrutineers who agree a score for the X-ray.

   A score assigned by the BVA is divided up into nine features for both hips, and ranges between 0 and 53 per hip. The hip score may also be reported as a sum of the two hips (therefore ranging between 0 and 106). The average hip score for the breed is currently 13.

   There are a number of different of hips score schemes being used in various countries, this table allows a comparison between the results (no guarantees are made about the accuracy of the information). For schemes such as the BVA or DKK, where results are presented separately for each hip, the table below refers to the total value.

Elbow Scores

  Elbow dysplasia refers to an abnormal development of the elbow. Various abnormalities cause problems by affecting the development of the cartilage, or the surroundings of the joint.

  There are a number of factors causing the condition, however studies have shown that elbow dysplasia has a high hereditability confirming that the disease is mainly genetic.

  Currently, the most used schemes for screening for elbow dysplasia run along the International Elbow Working Group (IEWO) guidelines. An X-ray is taken of the dog's elbows, which is passed on to experts who score the X-ray (in Britain, there are two independent scrutineers).

CEA

  Collie Eye Anomaly (CEA), also known as Choroidal Hypoplasia (CH), is an inherited eye disorder which stops the choroid developing normally. Dogs can be examined at a young age (between 5 and 8 weeks) with an opthalmoscope, and in many cases CEA can be diagnosed if present. Severe cases can lead to loss of vision, although rarely result in total blindness.

  Research at Cornell University and at The Fred Hutchinson Cancer Research Center uncovered the disease gene, and the disease causing mutation. The mutation follows the inherited recessive pattern, i.e. the parents of an affected offspring must at least carry the mutation themselves (they could also be affected). Due to the discovery of the gene, a DNA test is possible to determine not only affected dog, but also carriers of the disease (in whom the disease will never be present, but who may pass the mutation onto their offspring).

  Our Software makes use of the results of this DNA test to infer probabilities of being affected or carrying the mutation. The result of dogs whose genotype is known (either through a DNA test or by being diagnosed affected by a vet) appears with a thick outline in the genetic propagation diagram. For these dogs, the word Tested appears in the corresponding CEA field. Probabilities for untested dogs are inferred automatically and are presented with a thin outline in the genetic propagation diagram. 

  The below table shows the average outcome of all the possible matings:

CL

  Ceroid Lipofuscinosis (CL) in the Border Collie is a rare disease which affects the nerve cells of the body. The disease may result in death. It is inherited and follows the inherited recessive pattern, which means that the parents of an affected offspring must both be either carriers or affected themselves.

  Research at the University of New South Wales has uncovered the disease gene, and the disease causing mutation. Due to the discovery of the gene, a DNA test is possible to determine not only affected dog, but also carriers of the disease (in whom the disease will never be present, but who may pass the mutation onto their offspring). Our Software makes use of the results of this DNA test to infer probabilities of being affected or carrying the mutation. The result of dogs whose genotype is known (either through a DNA test or by being diagnosed affected by a vet) appears with a thick outline in the genetic propagation diagram. For these dogs, the word Tested appears in the corresponding CL field. Probabilities for untested dogs are inferred automatically and are presented with a thin outline in the genetic propagation diagram.

  The below table shows the average outcome of all the possible matings:

TNS

Trapped Neutrophil Syndrome (TNS), also known as Hereditary Neutropenia, is an inherited disease which causes a low number of neutrophils to circulate in the blood. As neutrophils are necessary for destroying bacteria, a low number of them causes affected dogs to eventually die from infections they cannot stop.

Puppies as young as 2 weeks can display signs, and usually die (or are PTS) by 4 months. Until the DNA test came out in 2007, it was very difficult to diagnose TNS because deceased puppies were often not even suspected of being affected with TNS. This, compounded with the fact that the neutrophil count may not have been much lower than expected for an affected puppy, may mean that TNS is more widely spread than initially expected.

Some of the possible signs of TNS affected puppies:

• The puppies growth rate may dramatically slow down from 2 weeks of age.
• They experience bouts of diarrhoea and fever.
• Lameness and sensitivity to pressure on joints may also occur.
• The puppies may also have an unusual head shape.

The below table shows the average outcome of all the possible matings: