Episodic Falling Disease – EFS (External Lab)
Kodas: H674
Short description
Episodic Falling Syndrome (EFS), also called Episodic Hypertonicity, Hyperekplexia or Paroxysmal Exercise-Induced Dystonia, is a neurological disorder found in the Cavalier King Charles Spaniel.
General information
Episodic Falling Syndrome (EFS), also called Episodic Hypertonicity, Hyperekplexia or Paroxysmal Exercise-Induced Dystonia, is a neurological disorder found in the Cavalier King Charles Spaniel. The disease causes episodes of muscle stiffness that can temporarily immobilize affected dogs. It is caused by a recessive mutation to the gene BCAN.
Specifications
| Breeds | |
|---|---|
| Gene | BCAN |
| Chromosome | 7 |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
EFS episodes can begin between anywhere between 14 months and 4 years of age, and can be triggered by exercise, stress, apprehension or excitement. An episode consists of progressing hypertonicity (increased muscle tightness) in the limbs, ultimately immobilizing the dog in a spread-legged "deer-stalking" or "praying" stance. The dog remains fully conscious during the episode. Other clinical signs may include facial muscle stiffness, stumbling, a 'bunny-hopping' gait, arching of the back or vocalization.
Additional information
This test is performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In this case, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.
References
Pubmed ID: 21821125
Year published: 2012
Omia ID: 1592
Omia variant ID:
Turnaround information
- 20 working days
- This test is performed by an external laboratory.
- CombiBreed takes care of the mediation between you as a customer and the external laboratory.