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1 ) Craniomandibular Osteopathy (CMO)
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Breeds
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Cairn Terrier
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Scottish Terrier
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West Highland White Terrier
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The Disease |
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Craniomandibular Osteopathy (CMO) is an inherited bone disease affecting West Highland White Terriers, Cairn Terriers and Scottish Terriers. CMO is also know as Lion Jaw. The disease is characterised by excess bony growth in young dogs. CMO affects the mandibles (jaws), sometimes the temporomandibular joints, occasionally skull bones and more rarely long bones of the legs.
Clinical symptoms typically begin between 4 and 8 months of age and include periodic intense jaw pain, swelling of the jaws, difficulty eating, pain when opening the mouth and drooling. A lump of extra bone on the mandibleand very often noticeable.
The condition generally disappears spontaneously about a year after symptoms are first seen. |
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2 ) Globoid Cell Leukodystrophy (Krabbe Disease)
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Breeds
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Cairn Terrier
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Irish Setter (Red Setter)
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West Highland White Terrier
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The Disease |
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Globoid cell leukodystrophy or Krabbe disease is a severe, autosomal recessive dirsorder resulting from a deficiency of galactocerebrosidase (GALC) activity whereby the white matter is degenerated. Clinically, the symptoms appear between the 1st and 3rd months of age. Weakness of the limbs and tremors appear first, followed by muscular atrophy and neurological degeneration. The affected dogs may live until 8 or 9 months of age, when the symptoms become so severe that the dog is usually euthanized. Pathological studies of the white matter from affected dogs show characteristic globoid cells and loss of myelin.
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Description |
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This is a mutation-based gene test, which offers many advantages over other methods
Progress in molecular genetics has allowed the identification of the gene mutation responsible for Globoid Cell Leukodystrophy (Krabbe) in West Highland White and Cairn Terriers.
By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.
If a particularly valuable dog turns out to be a carrier, it can be bred to a non-affected animal, and non-carrier puppies can be saved for the next round of breeding.
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Trait of Inheritance |
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Globoid Cell Leukodystrophy (Krabbe) in West Highland White and Cairn Terriers is an inherited autosomal recessive trait. This means that a dog can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling this disease.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Globoid Cell Leukodystrophy (Krabbe Disease). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / GLD [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop Globoid Cell Leukodystrophy (Krabbe Disease) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: GLD / GLD [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop Globoid Cell Leukodystrophy (Krabbe Disease) and will pass the mutant gene to its entire offspring
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3 ) Macrothrombocytopenia ( MTC- R )
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Breeds
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Cairn Terrier
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Jack Russell Terrier
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Norfolk Terrier
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Parson Russell Terrier (PRT)
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The Disease |
Macrothrombocytopenia ( MTC ) is inherited as an autosomal Recessive trait characterized by low platelet count and the presence of some larger than normal platelets in circulation.
Unlike acquired macrothrombocytopenia (thrombocytopenias secondary to infectious agents, medications, immune-mediated causes), this form does not respond to treatment.
It is important to note that these dogs may mistakenly be considered to have an underlying disease that results in thrombocytopenia, such as immune-mediated thrombocytopenia, tick-borne infection, or a bone marrow disorder.
MTC in Cairn Terrier and Norfolk Terrier is inherited as an autosomal recessive trait and results can be Clear (N/N), Carrier (N / MTC), or Affected (MTC / MTC)
A dominant form of MTC is found in other breeds click on the following link for further details: Dominant Macrothrombocytopenia (MTC) . |
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Trait of Inheritance |
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Macrothrombocytopenia ( MTC- R ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / MTC [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop Macrothrombocytopenia ( MTC- R ) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: MTC / MTC [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop Macrothrombocytopenia ( MTC- R ) and will pass the mutant gene to its entire offspring
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4 ) PK Deficiency (Pyruvate Kinase Deficiency)
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Breeds
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Basenji
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Beagle
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Cairn Terrier
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Labrador Retriever
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Pug
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West Highland White Terrier
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The Disease |
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Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response. In dogs, the anemia is always severe (PCV 10-20%) whereas in cats the anemia shows a regenerative response. Also associated with the disease in dogs but not cats is a progressive myelofibrosis and osteosclerosis of unknown etiology and this feature, along with liver failure, is the major cause of death in affected dogs.
The life expectancy of affected dogs is shortened and most die before 4 years of age.
PK deficiency has been recognized in both dogs and cats. The dog breeds involved are the Basenji, Beagle, Dachshund, Eskimo, West Highland White Terriers and the Beagle. In cats, PK deficiency has been described in Abyssinian and Somali cats, as well as DSH cats. The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure. In all breeds the disease is inherited as an autosomal recessive condition. Heterozygotes (carriers) do not have any clinical signs of disease and lead normal lives. They are able to propagate mutations throughout the population however and it is therefore important that carrier animals be detected prior to breeding.
PK deficiency can be detected, using molecular genetic testing techniques, in the Basenji, Beagle, Pug, Labrador Retriever, West Highland White and Cairn Terriers and the Beagle. These tests identify both affected and carrier animals. It is also possible to identify animals deficient in PK activity through enzyme analysis in those breeds where a molecular genetic test is not available.
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Clinical Signs |
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The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly. The anemia is macrocytic, hypochromic and highly regenerative in dogs. Radiographs reveal generalized abnormalities in bone density including intramedullary mineralisation of the long bones suggestive of progressive osteosclerosis in dogs.
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Trait of Inheritance |
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PK Deficiency is inherited in an autosomal recessive trait.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop PK Deficiency (Pyruvate Kinase Deficiency). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / PK [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop PK Deficiency (Pyruvate Kinase Deficiency) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: PK / PK [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop PK Deficiency (Pyruvate Kinase Deficiency) and will pass the mutant gene to its entire offspring
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Price
for the above 4 tests
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£ 138.00 (including VAT)
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