Dog

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.

Complement factor C3 deficiency in dogs is a condition that leads to immune system failure. This condition makes affected dogs more susceptible to multiple and recurrent bacterial infections, as well as certain kidney diseases of immune origin. The gene involved in this pathology is the C3 gene, with a specific mutation identified as c.2136delC. The frequency of carriers of this mutation is approximately 1%, and symptoms can appear from a very young age.

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.