EFS - Episodic Falling Syndrome/Cavalier King Charles Spaniel

Collapse with increased limb extensor tone

Description: 
Neurological condition leading to dyskinesia induced by exercise, excitement or stress and characterised by hypertonicity of all four limbs.
Symptomes: 
Muscular hypertonicity of the limbs and trunk muscles, "deer-stalker" gait leading sometimes to collapse
Age d'aparition: 
From 14 weeks to 4 years
Fréquence: 
French population: 14,8% carriers ; English population: 8% carriers ; American population: 12,9% carriers
Gène impliqué: 
BCAN
Mutation testée: 
15.7kb del, exons 1-3
Transmission: 
Autosomal Recessive
Remarques: 
Also called "sudden collapse". As Episodic Falling Syndrome is a highly variable condition, some homozygous mutated dogs will not show clinical signs of EFS. Conversely, some dogs can show symptoms close to EFS, this genetic test may then contribute to a differential diagnosis especially between this disease and different types of epilepsy.