EF / CC / DE

Episodic Falling Syndroom (EFS)

All my cavaliers are dna-tested for CC and DE.
Only responsible combinations will be made, so that it’s impossible for your future puppy, to suffer from this syndrome.

Explanation of Episodic Falling Syndroom
EFS is an ‘exercise-induced hypertonicity disorder’ meaning that there is increased muscle tone and the muscles are unable to relax. Episodes will be in response to excitement, exercise, or frustration, except in severe cases.
Then symptoms may be chronic or happen with no apparent cause.
Episodic Falling Syndrome displays itself as an array of symptoms so it is not easy to describe. Each dog will have it’s own expression of the disorder. The frequency, type and/or severity of episodes may increase, decrease or change as the dog gets older. Therefore, there is no pattern to the progression of EFS.

If a Cavalier has one episode, however mild, then that dog should be assumed to be affected and a DNA test administered.

EFS events can range from momentary to very extended periods, depending on the dog and the degree of stress causing the symptoms.
A correct diagnosis is important to help alleviate the symptoms if possible. While symptoms usually arise by five months of age, first notable symptoms can occur at any age. EFS can occur in all colors and both sexes.
If EFS is suspected than you can order a DNA test at Animal Health Trust in England http://www.aht.org.uk/

CLEAR: These dogs have two normal copies of DNA. Clear dogs will not develop EF as a result of the identified mutation. We cannot exclude the possibility that 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. We cannot exclude the possibility that 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. Our research indicates that some dogs with the EF associated mutation will not show clinical signs of EF.

Description of Symptoms
During episodes the dog is aware, conscious and is sometimes able to react to stimuli.
There is no loss of bodily function.

Episodes may include one or any combination of the following:

* Freezing momentarily
* Freezing or walking with the head down and to one side.
* Stiffness in the back legs
* An apparent lack of coordination in the rear or front limbs
* A bunny-hopping gait
* Roached back with stiff back legs (may be a sign of back injury)
* Temporary loss of control in the hind legs
* Attempting to rise only to fall
* Rolling or somersaulting
* Laying on one side with the back legs extended, limbs may twitch
* Apparent ‘spasm’
* Drooling
* Retraction of the front legs, sometimes over the head
* Tightening of the muscles around the mouth with an inability to open the jaws
* Eyes may appear to bulge as the muscles of the face contract.
* The ‘deer stalker’ position where the front legs contract and the rear legs stiffen
* Chronic tenderness and stiffness may exsist in extreme cases.

After episodes, dogs with mild symptoms usually continue as if nothing has happened. If the episode is severe or lengthy, some panting may occur and the dog may rest and sleep. After severe episodes some puppies become frightened and take some time to calm down. Most get used to the events with age. EFS does not seem to affect temperament.
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Curly Coat Syndrome (CC) & Dry Eye (DE)

All my cavaliers are dna-tested for CC and DE.
Only responsible combinations will be made, so that it’s impossible for your future puppy, to suffer from this syndrome.

Above a picture of a healthy puppy (with normal coat)

Above a picture of a healthy puppy (with normal coat)

Above a picture of a Curly Coat puppy

Above a picture of a Curly Coat puppy


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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.

Early in 2011 Geneticists at the AHT identified a recessive mutation associated with Dry Eye Curly Coat Syndrome.
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.

You can order a DNA test at Animal Health Trust in Engeland http://www.aht.org.uk/