Episodic Falling Syndrome
This disease causes episodes of spastic muscle contraction in response to stress, excitement, or exercise. EFS is caused by deficiency of a protein called brevican, which has a role in controlling the speed and rate at which specific neurons in the brain and spinal cord fire. Loss of brevican leads to abnormal bursts of neuronal activity, leading to the downstream effect of spastic muscle contraction.
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Signs and symptoms
After a trigger, affected dogs experience a sudden stiffening of all four limbs, arched back, and exaggerated "deer-stalking" gait, and loss of balance. Some owners believe they are witnessing a seizure, though no loss of consciousness occurs.
Signs first appear in puppies. -
Diagnosis
Genetic testing, blood work, neurological tests, and clinical signs can be used to diagnose this condition.
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Treatment
Affected dogs usually recover within an hour of an episode, though the stiff limbs and gait may persist for several hours. However, they may overheat during an episode due to the uncontrollable muscle contractions, which could be life threatening. Medications are available to help control symptoms.
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What to do if your dog is at risk
Actions
- Minimizing exposure to typical triggers may help reduce clinical signs. Please follow the recommendations from your veterinarian.
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Genetic Information
This mutation was first described in the Cavalier King Charles Spaniel.
This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.
Gene names:
BCAN (Exons 1-4) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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