Episodic Falling Syndrome
Affected Genes: BCAN
Inheritance: Autosomal Recessive
Variant(canFam6):
chr7:40812293-40828026: ALT>REF 15.7 kb deletion, 5 bp insertion (ins AAGGC)
Breed: Australian Cobberdog
Cavalier King Charles Spaniel
Cavapoo
Cavapoochon
General Information: Episodic Falling Syndrome (EFS) is an inherited muscular disorder in dogs, typically manifesting between 14 weeks and 4 years of age, often triggered by exercise, excitement, or stress. It causes episodes of increased muscle tone and spasticity, particularly in the limbs, leading to a temporarily locked or extended position known as a "praying" stance or collapse. These episodes, lasting from seconds to minutes, spontaneously resolve. Between episodes, affected dogs appear neurologically normal. The condition varies in severity and frequency throughout the dog's life without a predictable progression pattern.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Episodic falling syndrome is inherited in dogs through the BCAN gene in an Autosomal Recessive manner, requiring two copies of the mutated gene for disease development. While carrier dogs typically show no symptoms, breeding two carriers increases the risk of affected offspring (25% chance of disease, 50% chance of carrier). Reliable genetic testing is crucial for responsible breeding practices to avoid producing affected pups. Thus, mating known carriers of the mutation is discouraged to prevent perpetuating the condition in breeding lines, while dogs without the mutation carry no increased risk of passing on the disease.
References:
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 45(1):130-136.
Herrtage ME, Palmer AC. Episodic falling in the cavalier King Charles spaniel. Vet Rec. 1983 112(19):458-459.