(Neuronal) Glycoproteinosis (Lafora Disease)
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 worsen over time
Clinical Signs:
Behavioral/Mental Awareness
Seizures
Depression
Startle response
Posture and Appearance
Facial muscle twitching
Fine body tremor
Phases of myoclonus
Movement
Sudden front limb collapse
Muscle weakness
Stiffness
Proprioception
Proprioceptive deficits
Cranial Nerves
Diminished visual reflexes
Spinal Reflexes
Diminished tendon reflexes
Special Functions (e.g. respiration; urination)
Increased appetite
Clinical heart disease
Other
Unilateral glaucoma
Behavioral/Mental Awareness
Seizures
Depression
Startle response
Posture and Appearance
Facial muscle twitching
Fine body tremor
Phases of myoclonus
Movement
Sudden front limb collapse
Muscle weakness
Stiffness
Proprioception
Proprioceptive deficits
Cranial Nerves
Diminished visual reflexes
Spinal Reflexes
Diminished tendon reflexes
Special Functions (e.g. respiration; urination)
Increased appetite
Clinical heart disease
Other
Unilateral glaucoma
Brain and spinal cord
Autosomal recessive NHLRC1 gene mutation
For breed specific genetic testing, click the link below:
https://labogen.com/en/genetic-diseases-dog/lafora-disease/
For breed specific genetic testing, click the link below:
https://labogen.com/en/genetic-diseases-dog/lafora-disease/
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