Search results for: 'DOG-PRA-PRCD'

The microphthalmia in Soft-Coated Wheaten Terriers is a congenital ocular malformation associated with a mutation (K12del) in the RBP4 gene, which disrupts the transport of vitamin A essential for eye development. The disease follows a particular inheritance pattern dependent on a maternal effect, where the genotype of the mother directly influences embryonic development. It results in an abnormally reduced development of one or both eyes in the puppy.

This test is also mandatory for the Jack Russell Terrier as part of the Flemish government's official breeding program (see official program).

Cerebellar hypoplasia in the White Swiss Shepherd is a genetic disease linked to an abnormality in the development of the cerebellum. Symptoms generally appear between 2 and 4 weeks of age and include progressive ataxia (loss of co-ordination of movement), difficulty standing upright, walking in a straight line and difficulty suckling. Affected puppies show a normal sucking reflex, but have difficulty attaching to the nipple. At necropsy, severe anatomical abnormalities are observed, including the absence of cerebellar folia, moderate internal hydrocephalus and alterations in the structure of the cerebellum, with disorganised cell layers. The disease generally leads to the euthanasia of puppies at around 4 weeks of age.

Osteochondrodysplasia is a skeletal developmental disorder that appears very early in puppies. It causes visible bone deformities, such as shortened or curved limbs, enlarged joints, a flattened rib cage, and sometimes a shortened lower jaw. Radiographs reveal abnormalities in ossification, particularly in the epiphyses and vertebrae. Affected puppies show marked joint stiffness that decreases with age, but mobility remains limited. In the long term, osteoarthritis is common and has a lasting impact on quality of life.

This test is also recommended for the Papillon as part of the Flemish government breeding program (see the official program).

Congenital myasthenic syndrome is an inherited neuromuscular disease observed in the Jack Russell Terrier. Affected puppies appear normal until 6 weeks of age, then gradually develop generalized muscle weakness, walking briefly for 10 to 15 steps before stopping or lying down. Treatment with anticholinesterase drugs leads to temporary improvement, but resistance to the treatment often requires euthanasia.

In the Jack Russell Terrier, congenital myasthenia is most commonly caused by the 729dup mutation. However, under the breeding regulation of the Flemish government, it is the 1508dup mutation that must be tested for in both the Jack Russell Terrier and the American Staffordshire Terrier. This test specifically detects the 1508dup mutation.