Search results for: 'DOG-PRA-PRCD'

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.

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.

 

Craniomandibular osteopathy (CMO) is a bone disease affecting young dogs, usually between 4 and 8 months of age.
It appears as swelling of the jaw, pain, difficulty opening the mouth, fever, and loss of appetite. Excessive bone growth mainly affects the mandible and skull, and sometimes the long bones.
The mutation may be present without causing visible symptoms, due to its variable expression and incomplete penetrance.

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

Neuro-axonal dystrophy is a rare inherited neurological disorder observed in the Spanish Water Dog.
Signs appear between six and eleven months of age and progress slowly, including gait abnormalities, behavioral changes, and sometimes incontinence.
On examination, a slight head tilt, moderate ataxia, reduced reflexes, and other neurological problems such as sensory, visual, or muscular deficits can be observed.
The disease is severe and multifocal, and affected dogs are generally euthanized before the age of two. This test is also recommended for the Lagotto Romagnolo as part of the Flemish government’s breeding program (see the official program).

Exercise induced collapse is a neuromuscular disorder characterised by muscle weakness, incoordination and life-threatening collapse after intense exercise. Five to fifteen minutes of intense exercise causes dogs with this syndrome to develop a staggering gait and loss of control of the hind limbs. The episode may extend to all four limbs. Collapsing episodes usually last 5-10 minutes, and after 30 minutes there is often a full recovery, but episodes are sometimes fatal. This test is patented and subcontracted to the patent holding laboratory.

Hyperuricemia, also known as hyperuricosuria, is a genetic defect causing high levels of uric acid in the urine. The clinical signs of the disease are stones in the bladder or kidneys. HUU can be tested for in any breed, but is most commonly found in the breeds listed below.

Hypocatalasia (or acatalasemia) is a rare genetic disorder caused by a mutation in the CAT gene, leading to a severe deficiency of catalase. This enzyme normally protects tissues against oxidative stress. The c.979G>A (p.Ala327Thr) mutation was first identified in a Beagle colony and subsequently detected in pet Beagles. A homozygous dog notably developed oral cavity gangrene with tooth loss at a young age. The disease may remain clinically silent for a long time, which highlights the importance of genetic screening in breeding dogs.
This test is also recommended for the Basset Hound as part of the Flemish government breeding program (see the official program).

Collie Eye Anomaly (CEA) is a complex inherited eye disorder affecting mainly herding breeds with Collie ancestry. It results from abnormal development of the inner eye structures, particularly the vascular and retinal layers. Clinical expression is highly variable: some dogs remain asymptomatic, while others show choroidal hypoplasia, optic nerve coloboma, microphthalmia, intraocular hemorrhage, retinal detachment, and in severe cases visual impairment or blindness.
The genetic test based on the NHEJ1 deletion is a useful breeding tool, but it does not reliably predict clinical severity or the presence of coloboma, as other genetic factors are involved. Therefore, systematic ophthalmologic examination, especially in puppies, remains essential for breeders and veterinarians.