Episodic Falling (EF)
Episodic Falling Syndrome, Collapsing Cavaliers Syndrome, Exercise-induced paroxysmal hypertonicity, Falling Cavaliers Syndrome, Sudden Collapse Syndrome, EFS
Episodic Falling (EF) is a neurological disorder that affects the Cavalier King Charles Spaniel breed. Typically, symptoms are observed starting at approximately 14 weeks to 4 years of age but have been observed in younger and older dogs. Symptoms can range from occasional falling to freezing or seizure-like episodes that can last from minutes to hours. The episode severity can vary as the dog ages and the attacks appear to have no standard pattern. Symptoms are typically triggered by excitement, exercise, or stress and are observed as an increase in muscle tone or stiffness in the dog’s limbs which can cause the dog to collapse during an episode.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Episodic Falling nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Episodic Falling but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Episodic Falling which results in occasional falling to freezing or seizure-like episodes.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
BCAN
Chromosome
Ch. 7
Mutation
C.13991_466+85delinsGGCCTT (15.7 Kb Deletion, 5 Bp Insertion)
Publication:
Gill JL, Tsai KL, Krey C, Noorai RE, Vanbellinghen JF, Garosi LS, Shelton GD, Clark LA, Harvey RJ. A canine BCAN microdeletion associated with episodic falling syndrome. Neurobiol Dis. 2012 Jan; 45(1):130-6. [PubMed: 21821125]
