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Episodic Falling (EF) in King Charles Spaniels

Description:

Episodic Falling (EF) is an autosomal recessive disorder predominantly found in King Charles Spaniels. It is characterized by muscle stiffness and collapse of the dog during times of excitement, stress, or exercise. Episodes can last for several seconds or several minutes. Approximately 13% of King Charles Spaniels are carriers for the mutation responsible for EF.

 

Signs associated with EF typically appear around the time that the puppy is three to seven months old. These symptoms are brought on during times of high excitement, stress, or exercise.

 

Signs include: Sudden rigidness in rear muscles Muscle spasms Limb rigidity Muscle stiffness Loss of coordination Stumbling Falling or collapse Yelping Arched back Overheating due to being unable to pant and release heat.

 

Due to a deletion in the BCAN gene, a protein required for proper formation of the central nervous system is not produced in appropriate proportions. EF is commonly mistaken with epileptic seizures however dogs do not lose consciousness like they do with epilepsy. Dogs seem conscious of what is happening to them and often stand up as if nothing happened after an episode. EF can be managed with appropriate care, although some dogs have such extreme episodes that they are euthanized to maintain quality of life. Fortunately, this disorder often improves with therapy and mild cases experience stabilization of the disease once the puppy reaches a year old.

 

EF is an autosomal recessive disorder. This means that a dog must inherit two copies of the mutation in order to present symptoms of EF. A dog with one copy of the mutation is known as a carrier and does not present symptoms. If two carriers are bred to one another, there is a 25% chance per puppy born that they will develop symptoms of EF and a 50% chance per puppy born that they will also be carriers of EF. Although LOA is treatable, the best way to manage EF is through prevention. Genetic testing can reveal the likelihood of a dog developing EF and can inform a breeder of major health concerns.

Sample Type:

Animal Genetics accepts Buccal Swab, Blood, Dewclaw. Collection kits are available and can be ordered at test now.

Test Is Relevant to the Following Breeds:

King Charles Spaniels

Results:

Animal Genetics offers DNA testing for Episodic Falling (EF) in King Charles Spaniels. The genetic test verifies the presence of the recessive mutation and presents results as one of the following:

EF/EF Affected The dog carries two copies of the mutant gene and is homozygous for the deletion in the BCAN gene associated with Episodic Falling. The dog will always pass a copy of the mutation to its offspring.
N/EF Carrier One copy of the deletion in the BCAN gene associated with Episodic Falling. Dog is a carrier and can pass on a copy of the defective gene to its offspring 50% 0f the time.
N/N Clear Sample tested negative for the deletion in the BCAN gene associated with Episodic Falling, and will not pass on the defective gene to its offspring.