Dog

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.

Progressive Retinal Atrophy (PRA) is a genetic disease observed in dogs, particularly in the Swedish Vallhund breed. This disease is characterized by the multifocal appearance of red and brown discoloration in the ocular fundus, followed over time by thinning of the retina. It progresses in three stages: in Stage 2, there is a gradual loss of function of both rod and cone photoreceptors, measured by electroretinography. Night blindness occurs first at the end of Stage 2, followed by decreased daytime vision in Stage 3. Histological examinations confirm the loss of photoreceptor cells at Stage 3.

This test is also recommended for the Chinese Crested Dog as part of the breeding program established by the Flemish government (see official program).

Neuronal ceroid lipofuscinosis is a hereditary neurodegenerative disease, with the first symptoms typically appearing around the age of 6. It manifests as cognitive disorders, anxiety, seizures, loss of coordination, sensory impairments, and behavioral changes. Dogs affected by this condition are generally euthanized.

This test is also recommended for the Jack Russell Terrier as part of the breeding program established by the Flemish government (see official program).

Amelogenesis imperfecta is a genetic disease affecting the tooth enamel in Parson Russell Terriers. It results in enamel that is dull, soft, and rough, leading to plaque buildup, gingivitis, and early tooth loss. The responsible mutation is found in approximately 9% of dogs.

This test is also recommended for Jack Russell Terriers as part of the breeding program established by the Flemish government (see official program).

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).

Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases that affect the central nervous system, leading to early neuronal death and progressive neurodegeneration. NCL2 specifically affects dachshunds, with symptoms including vision loss, tremors, and coordination problems starting at a young age. Unfortunately, there is no known cure for NCL2, and affected dogs typically do not survive past 12 months of age.

Spinocerebellar ataxia (SCA or SAMS) is a genetic disease of the nervous system. Affected dogs present the first signs of ataxia around the age of 3 to 6 months. The symptoms of this pathology are a loss of balance, a progressive lack of coordination until the total loss of mobility. Another test for late-onset spinocerebellar ataxia is available. For more information, consult the DOG-LOA test.

Lethal acrodermatitis is a genetic disease of the immune system. The clinical signs are skin lesions on the paws and muzzle, leading to secondary infections. In addition, the lesions cause hyperkeratosis of the pads and deformation of the nails. Affected puppies also suffer from diarrhea, bronchopneumonia and retarded growth. The first symptoms appear quickly after birth. Affected puppies usually die before 2 years of age or are euthanized.

Familial nephropathy (FN) is a genetic disease affecting the kidneys. Dogs with this disorder develop progressive kidney failure leading to death. The first symptoms usually appear between 6 months and 2 years of age and include excessive water consumption, weight loss, decreased appetite, diarrhea and vomiting.

Alaskan Malamute Polyneuropathy (AMPN) is a genetic neuromuscular disorder. Symptoms may include exercise intolerance, muscle atrophy mainly in the hind legs, laryngeal paralysis resulting in a change in barking and noisy breathing. The first signs of the disease appear between the ages of 3 and 19 months.