(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
Myoclonus (photomyoclonic response)
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
Diminished tendon reflexes
Diminished sensory placing reflexes
Special Functions (e.g. respiration; urination)
Increased appetite
Clinical heart disease
Other
Unilateral glaucoma
Behavioral/Mental Awareness
Myoclonus (photomyoclonic response)
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
Diminished tendon reflexes
Diminished sensory placing reflexes
Special Functions (e.g. respiration; urination)
Increased appetite
Clinical heart disease
Other
Unilateral glaucoma
Brain and spinal cord
It is currently unknown if these are new variants or if they are associated with autosomal recessive inheritance of mutated EPM2A or NHLRC1/EPM2B genes.
At this time the genetic testing is not recommended.
At this time the genetic testing is not recommended.
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