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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 – 8 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 (may be triggered by excitement, changes in lighting, suddent changes to sounds, or rapid changes in movement)
Progressive state of depression (porlonged periods of sleep and lethargy)

Posture and Appearance
Facial muscle twitching
Fine body tremor

Movement
Sudden front limb collapse ("nose-dive")
Muscle weakness
Stiffness
Reluctance to move
Fine body tremor

Proprioception
Proprioceptive deficits

Cranial Nerves
Diminished visual reflexes
​Ocassional facial twitching

Spinal Reflexes
Diminished tendon reflexes
Diminished sensory placing reflexes

Other
Hyperesthetic to external stimuli


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Brain and spinal cord
Autosomal recessive inheritance (NHLRC1)

For breed specific genetic testing follow the link below: 
https://www.pawprintgenetics.com/products/tests/details/418/?breed=169
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