Dog

Congenital deafness in Rottweilers is a genetic disorder causing bilateral hearing loss from the first weeks of life. Affected puppies show profound deafness, without other apparent clinical signs.

This condition is associated with a mutation in the LOXHD1 gene, which plays a key role in the function of the cochlear hair cells.

Severe early-onset epilepsy also known as Juvenile Brain DIsease is an extremely serious inherited neurological disorder.
Affected puppies develop normally during the first weeks of life, but around 6 to 12 weeks of age, they rapidly experience severe convulsive seizures that can progress to status epilepticus, often fatal or requiring euthanasia.
Post-mortem examinations reveal that the lesions are concentrated in the brain, with extensive necrosis of the neurons in the grey matter.

Classic-like Ehlers-Danlos syndrome is a rare genetic disorder of connective tissue, linked to abnormalities of the tenascin-XB protein (gene TNXB).

The c.2900G>A (p.Gly967Asp) mutation has been identified in a reported affected dog, in combination with a second mutation in the same gene.

Clinical signs include skin fragility, hyperextensible skin, and poor wound healing.

This mutation is found at low frequency in some breeds, but its pathogenic role remains preliminary and should be interpreted with caution.

Stargardt disease 1 is a genetic retinal disorder observed in the Labrador Retriever. It causes progressive degeneration of photoreceptors, initially affecting the visual streak and later the entire retina. Affected dogs show reduced vision, noticeable in both daylight and low-light conditions, with abnormal pupillary reflexes. The progression is slow, and most dogs retain some vision throughout their lives. Heterozygous carriers may show mild retinal abnormalities without obvious visual impairment.

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

Pituitary dwarfism in dogs is a hereditary endocrine disorder linked to abnormal development of the pituitary gland, resulting in insufficient production of several essential hormones, including growth hormone. Affected puppies initially show normal growth, followed by a marked slowdown, leading to proportionate dwarfism. This hormonal deficiency is often associated with characteristic skin abnormalities, such as bilateral symmetrical alopecia and persistence of the juvenile coat. Secondary dermatological complications may occur, including skin infections and pigmentation disorders. Associated anatomical abnormalities, particularly at the atlanto-axial junction, may lead to neurological signs.

Neuro-axonal dystrophy (NAD) in Papillon dogs is a rare inherited neurological disorder that causes progressive degeneration of the central nervous system.
Signs appear very early, usually between 2 and 4 months of age, and include gait abnormalities, head and limb tremors, weakness of the hind limbs, and in some cases, involvement of the forelimbs or visual deficits.
The progression is rapid and severe: affected dogs may have difficulty eating and are often euthanized shortly after the onset of symptoms due to a reserved vital prognosis.

Multiple system degeneration usually begins between 9 weeks and 6 months of age. The first signs include mild tremors and stiffness of the forelimbs.
Within 3 to 4 months, symptoms worsen, with severe ataxia, spasticity, an unsteady gait, and delayed postural reactions. The disease progresses to immobility and inability to stand, often leading to euthanasia between 1 and 2 years of age.

In the Giant Schnauzer, a specific form of progressive retinal atrophy (PRA) is associated with a mutation in the NECAP1 gene. The first symptoms typically appear around the age of 4. This disease is characterized by progressive retinal degeneration leading to blindness.

This test is also mandatory for Dachshunds and Pomeranians as part of the Flemish government's 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.