The Staffordshire Bull Terrier is by nature a healthy breed. However there are a couple of hereditary health issues and
the not known mode of inheritance health issues which you need to be aware of if you are considering buying a new
puppy or planning to breed from your bitch.
L-2-HGA (L-2-hydroxyglutaric aciduria) in Staffordshire Bull Terriers
L-2-HGA (L-2-hydroxyglutaric aciduria) in Staffordshire Bull Terriers 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 clinical signs usually apparent between 6 months and
one year (although they can appear later). Symptoms include epileptic seizures, "wobbly" gait, tremors,
muscle stiffness as a result of exercise or excitement and altered behaviour.
The mutation, or change to the structure of the gene, probably occurred spontaneously in a single dog
but once in the population has been inherited from generation to generation like any other gene. The
disorder shows an autosomal recessive mode of inheritance: two copies of the defective gene (one
inherited from each parent) have to be present for a dog to be affected by the disease. Individuals with
one copy of the defective gene and one copy of the normal gene - called carriers - show no symptoms
but can pass the defective gene onto their offspring. When two apparently healthy carriers are crossed,
25% (on average) of the offspring will be affected by the disease, 25% will be clear and the remaining
50% will themselves be carriers.
The mutation responsible for the disease has recently been identified at the Animal Health Trust. Using the information from this
research, we have developed a DNA test for the disease. This test not only diagnoses dogs affected with this disease but can also
detect those dogs which are carriers, displaying no symptoms of the disease but able to produce affected pups. Carriers could not
be detected by the tests previously available, which involved either a blood or urine test detecting elevated levels of L-2-
hydroxyglutarate or magnetic resonance imaging. 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 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:
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% (on average) 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, assuming it lives to an appropriate age.
Carriers can still be bred to clear dogs. On average, 50% of such a litter will be clear and 50%
carriers; there can be no affecteds produced from such a mating. Pups which will be used for
breeding can themselves be DNA tested to determine whether they are clear or carrier.
This test requires 3mls of whole blood in EDTA tube or cheek swab samples (swab kits available free
of charge from the address below or e-mail (swab.request@aht.org.uk)) can be sent. Samples should
be sent together with a completed DNA Testing form and payment of £67* inc VAT for each sample to
Genetic Services, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU.
*if DNA testing for HC is requested at the same time both tests together can be done at a discounted
rate of £115 inc VAT.
L-2-hydroxyglutaric aciduria (L2HGA) and Hereditary Cataracts (HC) - DNA Testing for Staffordshire Bull
Terriers
With immediate effect - please note the following change to the blood sample requirements for the
above tests
Any blood samples for animals from outside the European Union (except Australia and New Zealand)
must be 8-10 mls EDTA blood.
Samples from Australia should continue to be sent via Curtin Medical School.
Samples from New Zealand should continue to be sent via Gribbles Veterinary Pathology
DNA testing forms can be downloaded by clicking here.
Enquiries should be made to Symone Ingram telephone +44 (0) 1638 555621 or fax +44 (0) 1638 555643 or via e-mail to
dnatesting@aht.org.uk.
Hereditary Cataract in Staffordshire Bull Terriers
Hereditary Cataract in Staffordshire Bull Terriers 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.
The mutation, or change to the structure of the gene, probably occurred spontaneously in a single dog but once in the population
has been inherited from generation to generation like any other gene. The disorder shows an autosomal recessive mode of
inheritance: two copies of the defective gene (one inherited from each parent) have to be present for a dog to be affected by the
disease. Individuals with one copy of the defective gene and one copy of the normal gene - called carriers - show no symptoms
but can pass the defective gene onto their offspring. When two apparently healthy carriers are crossed, 25% (on average) of the
offspring will be affected by the disease, 25% will be clear and the remaining 50% will themselves be carriers.
The mutation responsible for the disease has recently been identified at the Animal Health Trust. Using the information from this
research, we have developed a DNA test for the disease. This test not only diagnoses dogs affected with the disease but can also
detect those dogs which are carriers, displaying no symptoms of the disease but able to produce affected pups. 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 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:
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.
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.
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.
Carriers can still be bred to clear dogs. On average, 50% of such a litter will be clear and 50% carriers; there can be no affecteds
produced from such a mating. Pups which will be used for breeding can themselves be DNA tested to determine whether they are
clear or carrier.
This test requires 3mls of whole blood in EDTA tube or cheek swab samples (swab kits available free of charge from the address
below or e-mail swab.request@aht.org.uk can be sent. Samples should be sent together with a completed DNA Testing form and
payment of £70* inc VAT for each sample to Genetic Services, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk
CB8 7UU.
*if DNA testing for L-2-HGA is requested at the same time both tests together can be done at a discounted rate of £115 inc VAT.
L-2-hydroxyglutaric aciduria (L2HGA) and Hereditary Cataracts (HC) - DNA Testing for Staffordshire Bull Terriers
With immediate effect - please note the following change to the blood sample requirements for the above tests
Any blood samples for animals from outside the European Union (except Australia and New Zealand) must be 8-10 mls EDTA blood.
Samples from Australia should continue to be sent via Curtin Medical School.
Samples from New Zealand should continue to be sent via Gribbles Veterinary Pathology
Any queries, please contact dnatesting@aht.org.uk or telephone 0044 8700 509144
Enquiries should be made to Symone Ingram telephone +44 (0) 1638 555621 or fax +44 (0) 1638 555643 or via e-mail to
dnatesting@aht.org.uk.
PHPV - PERSITENT HYPERPLASTIC PRIMARY VITREOUS
The mode of inheritance of PHPV is not so clear, but it is known that it is a congenital condition (present at birth) and that it is
not progressive. This means that if a puppy is born with PHPV it can be detected by ophthalmic screening from 6 weeks of age
and if it is affected, whatever the condition of the problem at that stage it will not change throughout the dogs life.
Either of the above conditions can be operated on, but it is a serious operation and can be traumatic and very expensive. It is not
always covered by insurance due to the hereditary nature.
Even though the genetic test is now available for Hereditary Cataracts it is still important to screen for PHPV
PPSC - POSTERIOR POLAR SUBCAPSULAR CATARACT
This type of cataracts is found in other breeds, particularly the Labrador and Golden Retriever.
It usually remains as a small, punctuate cataract and doesn't usually lead to sight problems in these two breeds. It has been
placed on schedule 3 of the BVA/KC/ISDS Eye Scheme because a number of Staffords that have been through the Scheme have
been found to have this type of cataract. This type of cataract cannot be detected through litter screening. The mode of
inheritance is unknown and has a variable age of onset. BREEDING STOCK SHOULD BE TESTED ANNUALLY TO DETERMINE THAT THE
DOG IS CERTIFIED CLEAR AT THE TIME OF MATING.
list of eye clinics
http://www.bva.co.uk/public/documents/EP_List_Jan_2010-3.pdf
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