Dog

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.

Juvenile myoclonic epilepsy is a genetic defect that causes myoclonic jerks described as electric shocks. Seizures occur daily in over 85% of cases.

Neurodegenerative vacuolar storage disease, also known as cerebellar ataxia, is a genetic disorder caused by the accumulation of non-eliminated substances in the lysosomes of nerve cells.

Affected dogs show symptoms such as progressive loss of movement coordination (ataxia), abnormal eye movements, and behavioral disorders (agitation, depression, aggression). Although reflexes may appear normal, neurological examinations often reveal atrophy of the cerebellum.

The disease is autosomal recessive, meaning that only dogs carrying two copies of the mutated gene show symptoms, usually around 23 months of age, but onset can vary.

Fucosidosis is a lysosomal storage disorder that causes the accumulation of proteins and lipids in organs and mainly in brain tissue, resulting in neurological symptoms. Affected animals show coordination and behavioural disorders, blindness and deafness. The first symptoms appear at around 18 months of age with a progression leading to the death of the animal.

Neuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative diseases characterised by the presence of spheroids (swollen axons) in the central nervous system. In Miniature American Shepherds, this disease manifests itself as a progressive weakening of the hind limbs, an unsteady gait and coordination problems (ataxia). Affected dogs often show these symptoms from young adulthood, leading to increasing difficulty in moving around. NAD can progress slowly, and although the disease is not immediately fatal, it can seriously affect the quality of life of affected dogs, sometimes leading to euthanasia due to the severity of the symptoms.

Globoid cell leukodystrophy, also known as Krabbe's disease, is a disorder of lipid storage in the central nervous system leading to progressive neurological degeneration. The first symptoms are ataxia and paresis of the hind legs occurring between 1 and 3 months of age, after which muscle atrophy is observed. Affected animals are usually euthanised due to lack of treatment.