Fucosidosis Testing for Springer Spaniels: Essential Guide

Fucosidosis is a serious hereditary condition recognised in Springer Spaniels, including both English and Welsh types. This rare genetic disorder leads to progressive neurological decline with symptoms such as loss of coordination, blindness, hearing loss, changes in temperament, and the unfortunate loss of previously learned behaviours.

This condition usually emerges between 18 months and four years of age, ultimately proving fatal. There is currently no cure or treatment to reverse Fucosidosis, so the best defence is prevention through responsible breeding involving genetic testing.

The Kennel Club, together with the British Veterinary Association, manages an official testing programme to identify dogs affected by or carrying the Fucosidosis gene mutation. This DNA test helps breeders make informed decisions to avoid producing affected puppies.

In this guide, you'll learn about Fucosidosis in detail, how the genetic inheritance works, how to get your Springer Spaniel tested, and steps breeders and owners can take to safeguard their dogs' health.

Understanding Fucosidosis

Fucosidosis is a lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-L-fucosidase. This enzyme normally breaks down complex sugar compounds in cells. Without it, these compounds accumulate in organs like the liver, lungs, and kidneys as well as in nervous tissue.

The progressive damage to the brain and nerves causes the characteristic symptoms, including loss of learned commands, worsening motor coordination, sensory loss, and significant behaviour changes. Sadly, the condition always worsens and leads to premature death.

Which Springer Spaniels Are at Risk?

This condition affects both English and Welsh Springer Spaniels and their crosses, including popular hybrids such as the Sprocker. Since symptoms appear later in life, affected dogs might unknowingly be bred before symptoms are evident.

How Fucosidosis Is Inherited

Fucosidosis is an autosomal recessive inherited disease. This means a dog must inherit two copies of the faulty gene—one from each parent—to develop the illness.

• If both parents are clear (free from mutation), their puppies will be unaffected.
• If both parents are affected, all puppies will be affected.
• If one parent is a carrier and the other is clear, puppies will be healthy but may be carriers.
• Two carrier parents have a 25% chance per puppy to be affected, 50% chance to be carriers, and 25% chance to be clear.

This pattern highlights why genetic testing of breeding stock is essential to avoid breeding affected pups and to reduce the prevalence of Fucosidosis in the breed.

How to Get Your Springer Spaniel Tested

For anyone considering breeding their Springer Spaniel, testing is strongly recommended. The test involves a simple, non-invasive DNA sample collection using a buccal (cheek) swab or blood sample taken by a vet and sent to an approved laboratory accredited by The Kennel Club.

This test categorises dogs as:

• Clear: Two normal genes, will not develop or pass on Fucosidosis.
• Carrier: One copy of the mutation, will not show symptoms but can pass it on.
• Affected: Two copies of the mutation, will develop the disease.

Results typically arrive within 3 to 10 working days. Costs usually range around £40-45. Breeders can then use this information to make responsible pairing decisions, avoiding mating two carriers.

Why Testing Matters

Breeding two carrier dogs has a 25% chance per puppy of producing affected litters. Since symptoms usually appear in adulthood, it is easy to unwittingly propagate the disease through unaware carriers.

By routinely testing breeding dogs, breeders can prevent the birth of affected puppies, safeguard the breed's health, and maintain genetic diversity. This responsible approach aligns with recommendations from The Kennel Club and British Veterinary Association.

Summary of Genetic Outcomes

Additional Tips for Breeders and Owners

• Always request Fucosidosis test results before purchasing or breeding Springer Spaniel puppies.
• Use reputable breeders who participate in the health testing programmes.
• Maintain detailed health records and share test results openly to support breed health initiatives.
• Consult your vet or a canine geneticist if you have questions about test results or breeding choices.

Where to Find More Information and Testing

For more details on the testing programme and approved laboratories, visit The Kennel Club's official Fucosidosis DNA test page. This resource provides guidance on sample submission and links to approved UK labs.

Remember, responsible use of testing helps protect our beloved Springer Spaniels from this heartbreaking disease and promotes healthier future generations.