Monitored hereditary diseases with the English Springer Spaniel breed in Czech republic

• Hip dysplasia (canine)
• Fucosidosis
• PRA - progressive retinal atrophy
• Cataract

Hip dysplasia

It is a disease of the skeleton which affects the hip joints. It varies from a looser connection to luxation of the hip joint. From the genetic point of view it is a disease with a polygenic heredity. External factors also have a great influence on the development of this disease.

DIET- disease might be „supported“by a poor diet.

MOVEMENT – puppies and young dogs should not be overloaded. Up to the age of one year a dog should be moving only on a soft and flexible surface. It is not good for the dog to be stabled in a hutch with a concrete floor.

COLD AND MOISTURE – It is essential to make sure that joints of a young dog don’t get too cold because this might later cause some type of joint disease.

HIP DYSPLESIA is an irreversible disease. This means that an ill joint cannot be healed. We can only prevent further development of the disease by giving the dog the so called chondroprotectives. HD is a developmental disorder so it occurs during the development of the dog’s organism.

HEREDITY OF THE DISEASE

This disease is transmitted from parents on to their offspring. If two dogs suffering from this disease have puppies it is highly probable that this disease will occur among their offspring.

PREVENTION

Considering the multifactorial inheritance and a great contribution of the external influences which are involved in this disease, it is required for the English Springer Spaniel to show the results of an examination for HD when applying for a stud dog. To become a stud dog, results of the examination for HD must be negative or rated D at the most. This examination can be done after the dog reaches the age of 12 months.

DIAGNOSIS OF HD

Diagnosis is done using the x-ray machine. The dog is under narcosis while being x-rayed; it is laid on its back with its legs stretched out.  

Fucosidosis

Fucosidosis is a metabolic disease caused by the lack of enzyme alfa-L-fukosidasa. It is a hereditary disease which shows if the dog has a mutation in a gene which encodes the enzyme alfa-L-fukosidasa. Healthy dogs have this enzyme and it splits a complex of proteins and fats and those are then metabolized. Dogs affected by this disease do not have this enzyme and the complex of proteins and fats is stored in cells of different organs – for example in lymphatic nodes, pancreas, liver, kidneys but mostly in the brain and nerve tissue. This accumulation intervenes with the functional abilities of the cell. Dogs with this disease do not live to be 4 years old.

Inheritance of this disease is autosomally recessive. A dog which inherited a copy of the mutated gene from both parents will have clinical symptoms. Dog which inherited the mutated gene from one parent is a carrier, this means that this dog has no clinical symptoms but its defective gene is transmitted on to its offspring. Diagnosis of the carriers is done by an analysis of DNA by methods of molecular biology (PCR).

Prevention

Prevention is being done by eliminating dogs that are FUCO positive. Combination of FUCO+ and FUCO negative dogs will have a result of 25% of carriers who are a risk for further breeding. To completely eliminate fucosidosis it would be necessary to eliminate all the „carriers„ from breeding.  

PRA (Progressive retinal atrophy)

Eye disease

This disease causes gradual degeneration of the eye retina either as a result of other diseases (infectious, diabetes, poisoning and so on) or with a hereditary foundation. What is happening in the retina is an insufficient function and necrosis of the light sensitive cells – the rods, retinal cones or both. Clinical symptoms occur with older dogs often after the age of three, which is when the dog is already a breeding dog. This disease is progressive and at the age of 4-6 years ends with blindness.

There are two forms of the disease:
• Generalized (Peripheral) PRA type I.
• Central PRA type II.

Diagnosis:

Early detection is problematic because in the initial stage even the ophthalmological examination may not be positive. Currently there are instruments developed for the detection of the early stages of the disease’s development. At a specialized workplace the beginning of the disease can be determined on the ERG (elektroretinogram), which is able to diagnose this disease as early as 6th- 10th week of the puppies age. Genetic transmitting is not exactly clear yet but apparently it is caused by two recessive alleles, which if connected create an afflicted individual.

This disease can be diagnosed by a veterinarian (ophthalmologist) before the owner notices any changes. Ophthalmological examination is quick and without the use of narcosis.

 Cord 1

There is a DNA diagnostics for this type of disease; unfortunately this test diagnoses only one mutation of PRA, the so called Cord 1. Research proves that 95 % of clinically ill ESS dogs were diagnosed with this specific mutation. Unfortunately this means that even a dog with a negative result of the DNA test for Cord 1 might get sick with a different form of PRA for which there is no test yet.

Prevention:

The only prevention is a strict selection. Breeding dogs must have regular ophthalmological examinations, which diagnose not only PRA, but also other hereditary diseases such as cataract and glaucoma, which are also quite common with the ESS breed.

Cataract

Cataract is the most common cause of blindness with dogs. Transparency of the eye lens keeps declining to a point when it disappears completely. At first only the edges of the lens are damaged but those have no influence on the quality of sight. As this disease progresses towards the middle of the lens, the sight keeps getting worse and in the end the animal goes blind. Eye lens damaged in such a way has a grey-white color that is why this disease is also called the grey cataract.

Sorting of the disease:
• Inbred cataracts (either of a genetic origin or eventually caused by something else)
• Juvenile cataracts (always of a genetic origin)
• Gained cataracts (caused by age, injury, by other eye diseases, or secondarily internal metabolic diseases)

The grey cataract can be operatively treated but the success of this treatment depends on its timeliness.

Diagnostics:

To find out if our dog suffers from cataract we only need a lamp and a mirror, so this can be done at home.

Prevention:

Same as with the PRA, to prevent juvenile cataracts from spreading, a strict selection in the breeding based on regular ophthalmological examinations of the breeding dogs, is required.