DNA Testing- Episodic Falling and Curly Coat/Dry Eye

EPISODIC FALLING IN THE CAVALIER KING CHARLES SPANIEL


Episodic falling is a neurological condition, induced by exercise, excitement or frustration, in which muscle tone increases. This means the dog is unable to relax its muscles, becomes rigid and falls over. Affected dogs usually start to demonstrate clinical signs before one year of age, with most cases having their first episode aged four to seven months.

 Episodic Falling syndrome is often difficult to diagnose as the syndrome can show similarities to other neurological conditions, such as epilepsy. A DNA test has been developed which will provide a useful diagnostic tool to the veterinary profession and dog breeders. 

Breeders using the test will be sent results identifying their dog as belonging to one of three categories:

CLEAR: these dogs have two normal copies of DNA. Clear dogs will not develop EF as a result of the identified mutation.  Some dogs may show some clinical signs similar to those of EF but due to a different genetic or clinical cause.

CARRIER: these dogs have one copy of the mutation and one normal copy of DNA. These dogs will not develop EF themselves but they will pass the mutation on to approximately 50% of their offspring.  Some dogs may show some clinical signs similar to those of EF but due to a different genetic or clinical cause.

AFFECTED: these dogs have two copies of the EF associated mutation and are likely to present clinical signs of EF during their lifetime, with an age of onset of around 4-7 months. EF is a highly variable condition. Research indicates that some dogs with the EF associated mutation will not show clinical signs of EF.


CURLY COAT/DRY EYE IN THE CAVALIER KING CHARLES SPANIEL


Dry eye and curly coat, known scientifically as congenital keratoconjunctivitis sicca and ichtyosiform dermatosis, affects a dog’s eyes and skin. Affected dogs produce no tears making their eyes incredibly sore. Their skin becomes very flaky and dry, particularly around the foot, and this can make standing and walking difficult and painful. This syndrome appears to be a problem unique to CKCS and most dogs diagnosed with the condition are put to sleep.

  A DNA test has been developed which will provide a useful diagnostic tool to the veterinary profession and dog breeders. The DNA test is specific to the mutation causing Dry Eye and Curly Coat Syndrome.

Breeders using the test will be sent results identifying their dog as belonging to one of three categories:

CLEAR: these dogs have two normal copies of DNA.  Clear dogs will not be affected by Dry Eye Curly Coat Syndrome as a result of the associated mutation identified.

CARRIER: these dogs have one copy of the mutation and one normal copy of DNA. These dogs will not develop Dry Eye Curly Coat Syndrome themselves but they will pass the mutation on to approximately 50% of their offspring.

AFFECTED: these dogs have two copies of the mutation associated with Dry Eye Curly Coat Syndrome and will be clinically affected.

Please note that is it is possible for some Cavaliers to be affected by non congenital forms of ichthyosis or dry eye which will not be detected by the DNA test.

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