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Paramyotonia Congenita (Paradoxical (Pseudo)Myotonia)
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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Paramyotonia congenita (Paradoxical myotonia) occurs due to altered neuronal membrane excitability resulting in transient episodes of persistent muscle contraction and stiffness.

Pseudomyotonia is a disorder characterized by nonpainful muscle stiffness resulting from a defect in Ca2+ ion movement at the end of muscle contraction, resulting in delayed muscle relaxation. ​
Age of Onset: 3 months - 2 years of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
​Clinical signs are transient, non-progressive, and recurrent. Often associated with exercise, excitement, and temperature extremes. Episodes commonly last a few seconds and spontaneously resolve with rest
Clinical Signs:
Posture and Appearance
Generalized muscle stiffness
Lateral recumbency
Collapse

Movement
“Stiff” gait

Special Functions (e.g. respiration; urination)
Apnea and cyanosis

Muscle Atrophy
Appendicular muscle hypertrophy
Diffuse neuromuscular
Autosomal recessive SLC7A10 gene mutation

For breed specific genetic testing, click the link below:
www.cagt.co.uk/product/paradoxical-pseudomyotonia/
To read more about this disease click below:
References
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