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H674

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.

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Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

Informations générales

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.

Caractéristiques cliniques

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.

Références

Pubmed ID: 21821125

Omia ID: 1592

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