Search results for: 'DOG-PRA-PRCD'

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.

This test is also recommended for English Springer Spaniel as part of the breeding program established by the Flemish government (see official program).

Locus S identifies piebald/white spotting patterns in dogs. A particular mutation within the MITF gene is linked to piebald spotting, though its impact varies across breeds. In breeds such as Collies and Boxers, this mutation exhibits dosage-dependent effects, where one copy produces partial white patterns and two copies result in more extensive white. Conversely, in other breeds, piebald spotting follows a recessive pattern, necessitating two copies for manifestation.

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 Terrier and Italian Greyhound as part of the breeding program established by the Flemish government (see official program).

Hereditary Nasal Parakeratosis (HNPK) in Labradors is a genetic disorder affecting the corneal layer of the nasal epidermis. Affected dogs show a thickened, dry, and rough nose, often with crusts and fissures, appearing at a young age. Histologically, it is characterized by diffuse parakeratotic hyperkeratosis with retention of nuclei in the stratum corneum and accumulation of proteinaceous fluids. Despite these skin symptoms, Labradors are otherwise healthy. This genetic test is patented and performed by a licensed laboratory.

Palmoplantar Keratoderma is a genetic condition that typically appears between 10 weeks and 1 year of age. Affected dogs develop painful thickening of the paw pads, with keratinous proliferations and fissures localized to the areas in contact with the ground. These fissures can lead to secondary infections and may cause lameness or reluctance to walk. The nails and other areas of the skin do not appear to be affected, and no other associated skin signs have been reported.

Golden Retriever muscular dystrophy is a homologue of Duchenne muscular dystrophy in humans. Affected dogs develop clinical signs at 8 to 10 weeks of age. Symptoms include a shuffling gait, inability to fully open the jaw, difficulty eating, curvature of the spine and ribs, resulting in a squatted posture. he disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Unilateral deafness associated with a vestibular syndrome is a genetic condition linked to an abnormality of the inner ear. It can result in hearing loss on one side as well as balance disorders.

The observed clinical signs include head tilt, circling movements, lack of limb coordination, and abnormal eye movements.

In the Doberman, a disease presenting similar symptoms has been described and is associated with a mutation of the MYO7A gene. For more information, please consult the page: DOG-DINGS.

CCDC39-related primary ciliary dyskinesia is an inherited disorder described in the Old English Sheepdog. It causes dysfunction of motile cilia, resulting in ineffective mucociliary clearance that promotes recurrent or persistent respiratory infections. Affected dogs show signs from the first days of life, including chronic nasal discharge, productive cough, sometimes fever, leukocytosis and bronchopneumonia. The mutation has been identified in both European and non-European populations of the breed, with a higher proportion of carriers in the European populations studied.

Paradoxical pseudomyotonia in dogs is a rare neuromuscular disorder characterized by transient episodes of generalized muscle stiffness, often triggered by intense exercise. Clinical signs typically appear before two years of age and occur during activities such as running, jumping, or climbing stairs. Episodes are usually brief and reversible, but their severity may vary between individuals. In more severe cases, respiratory involvement with apnea and cyanosis may occur, requiring increased clinical attention. Environmental conditions, particularly extreme temperatures, appear to exacerbate the frequency and severity of episodes.

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.