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.

RAB24-related cerebellar cortical abiotrophy is an autosomal recessive hereditary disorder described in the Old English Sheepdog and the Gordon Setter. The first signs appear between 6 months and 4 years of age, with progressive cerebellar ataxia, marked hypermetria, truncal sway and intention tremors, which may progress to severe gait disturbances. MRI can reveal cerebellar atrophy, and the reported lesions notably include a marked loss of Purkinje neurons. The genetic test allows identification of the associated RAB24 variant; it is also recommended in the Flemish Region breeding programme for the Airedale Terrier.

CCDC39-related primary ciliary dyskinesia is an inherited disorder described in the Old English Sheepdog. It causes dysfunction of motile cilia, resulting in ineffective mucociliary clearance that promotes recurrent or persistent respiratory infections. Affected dogs show signs from the first days of life, including chronic nasal discharge, productive cough, sometimes fever, leukocytosis and bronchopneumonia. The mutation has been identified in both European and non-European populations of the breed, with a higher proportion of carriers in the European populations studied.

Increased susceptibility to Mycobacterium avium complex infection is a hereditary immunodeficiency described in Miniature Schnauzers. Associated with a variant in the CARD9 gene and inherited as an autosomal recessive trait, it predisposes homozygous dogs to progressive systemic infections. Reported signs mainly include enlarged lymph nodes, as well as anorexia, lethargy, diarrhoea and fever. In the available study, age at diagnosis ranged from 1.5 to 8 years, with a median of 2.5 years; screening for the CARD9 variant is recommended in the breed to help reduce the birth of dogs at risk.

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.