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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.
Working days 25
Specifiche
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Gene | |
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specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
Mode of Inheritance | |
Chromosome | |
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Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
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Riferimenti
Pubmed ID: 21821125
Omia ID: 1592