(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 – 12 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 (stimulated by altering light and sound intensity)
Depression
Photosensitivity / Noise sensitivity
Changes in learned behaivor
Changes in sleep-wake cycle
Posture and Appearance
Facial muscle twitching
Fine body tremor
Movement
Sudden front limb collapse
Myoclonic jerks of the head and forelimbs
Muscle weakness
Stiffness
Cranial Nerves
Diminished visual reflexes
Impaired hearing
Special Functions (e.g. respiration; urination)
Increased appetite
Clinical heart disease
Other
Unilateral glaucoma
Behavioral/Mental Awareness
Seizures (stimulated by altering light and sound intensity)
Depression
Photosensitivity / Noise sensitivity
Changes in learned behaivor
Changes in sleep-wake cycle
Posture and Appearance
Facial muscle twitching
Fine body tremor
Movement
Sudden front limb collapse
Myoclonic jerks of the head and forelimbs
Muscle weakness
Stiffness
Cranial Nerves
Diminished visual reflexes
Impaired hearing
Special Functions (e.g. respiration; urination)
Increased appetite
Clinical heart disease
Other
Unilateral glaucoma
Brain and spinal cord
Autosomal recessive mutation in the NHLRC1 gene
For breed specific genetic testing follow the link below:
https://www.wisdompanel.com/en-us/dog-health-conditions/alexander-disease#:~:text=This%20disease%20is%20autosomal%20recessive,different%20genetic%20or%20clinical%20cause.
https://www.genomia.cz/en/test/lafora/
For breed specific genetic testing follow the link below:
https://www.wisdompanel.com/en-us/dog-health-conditions/alexander-disease#:~:text=This%20disease%20is%20autosomal%20recessive,different%20genetic%20or%20clinical%20cause.
https://www.genomia.cz/en/test/lafora/
To read more about this disease click below:
