Dog

Dystrophic epidermolysis bullosa is caused by an abnormality in collagen synthesis and is characterised by the presence of blisters at the dermal-epidermal junction leading to epidermal detachment. Affected puppies show skin lesions and ulcers.

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.

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, leading to paraplegia.

Cerebellar hypoplasia in the White Swiss Shepherd is a genetic disease linked to an abnormality in the development of the cerebellum. Symptoms generally appear between 2 and 4 weeks of age and include progressive ataxia (loss of co-ordination of movement), difficulty standing upright, walking in a straight line and difficulty suckling. Affected puppies show a normal sucking reflex, but have difficulty attaching to the nipple. At necropsy, severe anatomical abnormalities are observed, including the absence of cerebellar folia, moderate internal hydrocephalus and alterations in the structure of the cerebellum, with disorganised cell layers. The disease generally leads to the euthanasia of puppies at around 4 weeks of age.

Episodic falling syndrome is a neurological disorder in which episodes are triggered by exercise, stress or excitement and are characterised by stiffness of the thoracic and pelvic limbs. Symptoms vary from individual to individual.

The SLC6A3 PolyA(22) mutation, found in some Belgian Malinois, is linked to increased activity, stress-related behaviors, and episodic behavioral changes. Dogs with this mutation may show higher locomotor activity and sensitivity to environmental stress. Breeders should consider genetic testing for this mutation when selecting for behavior traits, while vets can use it to assess and manage behavior, especially aggression and stress. Identifying this mutation can aid in more targeted behavior management strategies.

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.

Retinal Dysplasia with Osteoskeletal Dysplasia (OSD1) is a genetic disease that affects collagen in Labrador Retrievers. It manifests itself as dwarfism with short limbs, especially the front legs, as well as ocular abnormalities such as retinal detachment and cataracts.

Affected dogs show signs as early as 4 to 6 weeks of age, with shortened and deformed front legs, a sometimes bulging skull and slightly squinty eyes. Eye lesions include retinal detachment and cataracts, while bone growth plates are poorly organised.

The disease is caused by a mutation that prevents the correct production of collagen, affecting the eyes more severely than the bones. Carriers of the mutation generally do not have bone problems, but may have mild eye damage.

This condition is caused by a disorder of fatty acid metabolism that reduces energy production in the muscles. Affected dogs show muscle weakness on exertion which can lead to tetraplegia, muscle pain and brownish urine after exercise.