Search results for: 'DOG-PRA-PRCD'

Myotonia congenita is a genetic disorder characterised by delayed skeletal muscle relaxation after contraction. The clinical signs are a stiff gait and hypertrophy of the skeletal muscles.

Multidrug Resistance 1 is a genetic mutation in a protein that transports drugs out of the brain. This mutation causes sensitivity to certain drugs, including ivermectin and loperamide. Because of this lack of drug clearance from the brain, affected dogs experience neurological symptoms such as ataxia or even death. MDR1 can be tested for in any breed, but is most commonly found in the breeds listed below.

Neuronal ceroid lipofuscinosis is a genetic defect characterised by progressive behavioural changes, hyperactivity, dementia, aggression, loss of coordination, ataxia, delayed postural responses, blindness and slow responses to pupillary light.

Progressive retinal atrophy causes blindness due to the destruction of the photoreceptors in the retina. The loss of vision begins at the age of 7 months and gradually declines until it is almost complete by the age of 3 to 5 years.

Progressive retinal atrophy 4, also known as CORD1, is a form of progressive retinal atrophy characterised by changes in the granular appearance of the fundus, followed by generalised tapetal hyperreflexia and retinal vascular attenuation with progressive extinction of the electroretinogram. CORD1 pathology is probably caused by a combination of mutations. Only the mutation in the RPGRIP1 gene is being tested.

This test is also recommended for the Miniature Poodle as part of the Flemish government breeding program

Cerebral neuronal lipofuscinosis type 8 (NCL8) is a hereditary neurodegenerative disease observed in certain breeds such as the German Shorthaired Pointer and the Australian Shepherd. Puppies develop normally until 12–14 months of age, after which signs of neurological degeneration appear, including visual impairment, repetitive behaviors, and decreased responsiveness to commands. The disease progresses to blindness, ataxia, and loss of motor function in the limbs, accompanied by frequent epileptic seizures. Due to the severity of symptoms and rapid progression, affected animals are often euthanized before 27 months of age.

Von Willebrand disease is a disease that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein. This disease is inherited as a dominant trait with incomplete penetrance, which means that not all dogs carrying the vWF mutation will show clinical signs of the disease.

Primary lens luxation is an autosomal recessive eye disease that causes inflammation and glaucoma. Lens luxation occurs between the ages of 3 and 8, with the lens moving away from its normal position ( luxation) with symptoms including red, watery eyes. If left untreated, PLL can quickly lead to blindness. The test can be performed for any breed, but is most commonly found in the breeds listed below.

Multifocal retinopathy is an eye disease with symptoms appearing between 11 and 16 weeks of age. Affected dogs have multiple circular areas of retinal detachment. Fluid accumulates under the detached retina, resulting in blistering of the eye. The disease progresses slowly and does not usually lead to blindness.

This test is also recommended for Boxer, Boston Terrier, Cairn Terrier, Jack Russel Terrier, Pyrenean Mountain Dog, Miniature Spitz, Rhodesian Ridgeback as part of the breeding program established by the Flemish government (see official program).

The Merle gene creates patches of colour in the coat and blue or odd-coloured eyes. Merle dogs may have hearing and eye problems. Dogs homozygous for Merle, also known as double Merle, are predominantly white and prone to several health problems. Merle can be tested in any breed, but is most often found in the breeds listed below.