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(Neuronal) Glycoproteinosis (Lafora Disease)
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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Glycoproteinosis is a lysosomal storage disease affecting glycoproteins, resulting from defects in lysosomal function. The term is sometimes reserved for conditions involving degradation of glycoproteins. Glycoproteinosis causes complex glycoproteins to accumulate in neurons.
Age of Onset: 5 months – 7 years of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
​Clinical signs worsen over time
Clinical Signs:
Behavioral/Mental Awareness
Seizures
Depression

Posture and Appearance
Facial muscle twitching
Fine body tremor

Movement
Sudden front limb collapse
Muscle weakness
Stiffness

Proprioception
Proprioceptive deficits

Cranial Nerves
Diminished visual reflexes

Spinal Reflexes
Hyporeflexia

Other
Unilateral glaucoma
Increased appetite
Clinical heart disease
Brain and spinal cord
Autosomal recessive inheritance

For breed specific genetic testing, follow the links below:

https://www.wisdompanel.com/en-us/blog/lafora-disease-in-dogs
https://labogen.com/en/genetic-diseases-dog/lafora-disease/​
To read more about this disease click below:
References
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