Search results for: 'DOG-PRA-PRCD'

Myotubular myopathy type 1, also known as X-linked myotubular myopathy, is a genetic disease of the skeletal muscles. Clinical signs include hypotonia, muscle atrophy and breathing difficulties. The 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.

Amelogenesis imperfecta (AI) is a genetic disorder affecting tooth enamel, causing it to be thin, brittle, or poorly mineralized. In Akitas, a recessive variant in the ACP4 gene has been identified, leading to hypoplastic AI due to an abnormal protein structure. The carrier frequency in Akitas is 22%. While AI cannot be cured, genetic testing can help manage breeding programs and improve dental care strategies.

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.

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.

Van den Ende-Gupta syndrome is a congenital skeletal development disorder affecting Wire Fox Terriers. It is characterized notably by severe mandibular prognathism (forward lower jaw) and low bone mineralization. Affected animals frequently present with luxations, particularly of the patella and elbow.

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

Juvenile laryngeal paralysis and polyneuropathy also known as polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV) is a neurological defect seen in Black Russian Terriers and Rottweilers where the disease is known as neuronal vacuolation and neuronal vacuolation and spinocerebellar degeneration (NVSD). Signs of disease include early onset of laryngeal paralysis, microphthalmia (small eyes), cataract and muscle weakness. The disease is progressive and affected animals die or are euthanised

Degenerative myelopathy is a neurodegenerative disease that progresses slowly and has a late onset (8 years or more). The initial clinical sign is characterised by hind limb ataxia. As the disease progresses, the frequently observed asymmetric weakness rises to affect the thoracic limbs, resulting in paraplegia. The majority of DM2/DM2 animals will not develop symptoms, however, elimination of these animals from breeding patterns reduces the genetic variability of the breed, which is why Progenus does not recommend this test.

Le poil long est causé par des mutations du gène du facteur de croissance des fibroblastes-5 (FGF5). Jusqu'à présent, cinq mutations ont été identifiées. Le test du poils long chez l'akita identifie la mutation c.578C>T qui est présente chez les races Akita, Eurasier, Samoyed et Siberian Husky. L'allèle du poil court (L) est dominant sur le poil long (l), donc deux copies de l'allèle du poil long sont nécessaires pour avoir des chiens à poil long.

Malignant hyperthermia, also known as canine stress syndrome, is a potentially fatal genetic disorder. The clinical signs of malignant hyperthermia are extreme muscle contractions, increased heart rate and fever. These symptoms are triggered by certain anaesthetics such as halothane, but also by intense exercise and certain foods. Malignant hyperthermia can be tested for in any breed, but is most commonly found in the breeds listed below.

Hereditary nasal parakeratosis is a genetic disease in Greyhounds that affects corneogenesis, causing abnormal thickening of the stratum corneum of the nose’s epidermis. The main symptoms include a thickened, dry, and rough nose, often covered with crusts and showing cracks. The condition can cause local discomfort and, in some cases, pain if the cracks are deep.

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