(All ponsardin staffordshire bullterriers are DNA tested and cleared by parentage of all listed below)
L2-Hga
Inherited through genes of parents, L-2-HGA (L-2-hydroxyglutaric aciduria) in Staffy’s is a neurometabolic disorder characterised by elevated levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid.
L-2-HGA affects the central nervous system, with signs usually visible between 6 months to a year. Symptoms include epileptic seizures, "wobbly" gait, tremors, muscle stiffness as a result of exercise or excitement and altered behaviour.
DNA tests are available and will determine whether the dog is a carrier, clear or affected. Breeders will be sent results identifying their dog as belonging to one of the given categories:
- CLEAR: the dog has 2 copies of the normal gene and will neither develop L-2-HGA, nor pass a copy of the L-2-HGA gene to any of its offspring.
- CARRIER: the dog has one copy of the normal gene and one copy of the mutant gene that causes L-2-HGA. It will not develop L-2-HGA but will pass on the L-2-HGA gene to 50% of its offspring.
- AFFECTED: the dog has two copies of the L-2-HGA mutation and is affected with L-2-HGA. It will develop L-2-HGA at some stage during its lifetime.
Hereditary Cataracts (Juvenile Cataracts)
Hereditary Cataract in Staffy’s has been recognised as an inherited condition since the late 1970’s. Affected dogs develop cataracts in both eyes at an early age. The condition is not congenital, so the lenses are normal at birth but cataracts appear at a few weeks to months in age, progressing to total cataract and resulting blindness by 2 to 3 years of age.
Under most circumstances, there will be a much greater number of carriers than affected animals in a population. It is important to eliminate such carriers from a breeding population since they represent a hidden reservoir of the disease that can produce affected dogs at any time.
The DNA test is available now and information on submitting samples is given below. Breeders will be sent results identifying their dog as belonging to one of three categories:
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CLEAR: the dog has 2 copies of the normal gene and will neither develop Hereditary Cataract, nor pass a copy of the Hereditary Cataract gene to any of its offspring.
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CARRIER: the dog has one copy of the normal gene and one copy of the mutant gene that causes Hereditary Cataract. It will not develop Hereditary Cataract but will pass on the Hereditary Cataract gene to 50% (on average) of its offspring.
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AFFECTED: the dog has two copies of the Hereditary Cataract mutation and is affected with Hereditary Cataract. It will develop Hereditary Cataract at some stage during its lifetime, assuming it lives to an appropriate age.
Sometimes the condition is referred to as a double row of eyelashes, for extra hairs arise from the edge of the eyelid to rub against the corneal surface. The effects are variable and mild irritation to corneal ulceration will be seen. Treatment is extremely difficult and invariably involves surgery to remove the hair roots permanently. Plucking out the offending hairs is useful but not a permanent fix. Of course it is followed by hair regrowth, and many surgical techniques have been invented to remove the roots. Even then success is difficult to achieve, and the dog may have to suffer this condition throughout its life.
Primarily an inherited condition. It is due to an excess of eyelid tissue, or a small eye, or both, the result being that a varying amount of hair-covered eyelid can turn in to rub directly against the cornea or conjunctiva, or both. It is usually extremely painful, and the damage caused to the cornea can render the eye blind. Most dogs are affected by six months of age and in some the signs of the problem (excessive blinking and a wet face) may be seen within the first month of life. Occasionally the condition is self-correcting as the puppy grows, but in the vast majority of affect dogs surgery is necessary to turn the eyelid away from the surface of the eye. Usually such surgery is successful, but it is much better that, as with the other inherited eyelid defects, breeders try to avoid producing this condition in their stock.
Primarily an inherited condition, in which the lower eye lid droops away from the eyeball to expose the third eyelid and the conjunctiva. Exposure of the delicate mucous membrane causes conjunctivitis. Correction is possible by complicated surgery in which the eyelid is lifted and shortened. Occasionally further surgery may be necessary to change completely the shape of the eyelids.
PRA is a term used to describe a number of inherited retinal degenerations involving several breeds. The group is broadly divided into two, generalized PRA and central PRA. In the former, blindness at night time (nyctalopia) is an early indication of the presence of the disease, but eventually the dog is rendered totally blind. Cataract is a common secondary feature of the disease. In central PRA night blindness is not a feature and though vision is several affected, the dog may not become totally blind. In both groups of PRA there is degeneration of the photoreceptors, but in the generalized form this degeneration is the inherited defect, whereas in central PRA rod and cone degeneration follows an inherited defect elsewhere in the retina.
This is a congenital condition (present from birth) in which there is a developmental defect in the normal regression of some of the intraocular structures of the eye. PHPV can range from being very mild to severe abnormalities which may lead to blindness. The presence of mild abnormalities is usually seen as small brown pigmented dots on the posterior lens capsule. Previously the literature indicated that this was always observed as a bilateral phenomenon but recently it has been stated that affected dogs may show unilateral involvement, although this is less common. The present knowledge of the mode of inheritance of this disease is thought to be an autosomal irregular dominant with variable expression. Due to PHPV seldom resulting in secondary cataracts in the
Hip Dysplasia
Hip Dysplasia is a genetic disease with various degrees of arthritis (also called degenerative joint disease, arthrosis, osteoarthrosis) it can eventually produce, leading to pain and debilitation. The first step in the development of arthritis is articular cartilage (the type of cartilage lining the joint) damage due to the inherited bad biomechanics of an abnormally developed hip joint. Traumatic articular fracture through the joint surface is another way cartilage is damaged. With cartilage damage, lots of degradative enzymes are released into the joint.
The joint's lubrication and ability to block inflammatory cells are lost and the debris-tainted joint fluid loses its ability to properly nourish the cartilage through impairment of nutrient-waste exchange across the joint cartilage cells. The damage then spreads to the synovial membrane lining the joint capsule and more degradative enzymes and inflammatory cells stream into the joint.
Full thickness loss of cartilage allows the synovial fluid to contact nerve endings in the subchondral bone, resulting in pain. In an attempt to stabilize the joint to decrease the pain, the animal's body produces new bone at the edges of the joint surface, joint capsule, ligament and muscle attachments (bone spurs). The joint capsule also eventually thickens and the joint's range of motion decreases.
No one can predict when or even if a dysplastic dog will start showing clinical signs of lameness due to pain. There are multiple environmental factors such as caloric intake, level of exercise, and weather that can affect the severity of clinical signs and phenotypic expression (radiographic changes).