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Hereditary Ataxia (Belgian Malinois Type)

Affected Genes: SLC12A6

Inheritance: Autosomal Recessive

Variant(canFam6):
chr30:818335-818338: 4 bp deletion ATGA and 12 bp insertion CATCTCACTCAT

Breed: Belgian Malinois

General Information: Hereditary Ataxia (Belgian Malinois Type) is an inherited neurological disorder in dogs that affects coordination and balance. This condition is characterized by a progressive loss of coordination, leading to difficulty walking, standing, and performing normal activities. Affected dogs typically show symptoms such as unsteady gait, wobbling, head tremors, and a wide-based stance. Symptoms usually begin to appear in young dogs and progressively worsen over time. The disorder is caused by a mutation in a specific gene that affects the normal functioning of the cerebellum, the part of the brain responsible for coordinating movement. There is currently no cure for hereditary ataxia, and treatment focuses on managing symptoms and improving the quality of life for affected dogs.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Hereditary Ataxia (Belgian Malinois Type) can identify carriers of the gene mutation responsible for this condition. The disorder is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to be affected. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected by the disease, a 50% chance of being a carrier, and a 25% chance of being completely clear of the mutation. Reliable genetic testing is essential for responsible breeding practices to prevent the spread of this condition, and breeding two carriers together is not recommended to avoid producing affected puppies. Dogs that test negative for the mutation do not carry the gene and have no increased risk of producing affected offspring.


References:
Van Poucke M, Stee K, Sonck L, Stock E, Bosseler L, Van Dorpe J, and Broeckx BJG. Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. Eur J Hum Genet 2019 27(10):1561-1568.