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Gangliosidosis Type II (GM2/Sandhoff-Like Disease)
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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Gangliosidosis (GM2) is a deficiency in the enzyme beta-galactosidase which causes defects in the catabolism of gangliosides resulting in their accumulation in neuronal lysosomes.
Age of Onset:  Less than 18 months of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
​Clinical signs worsen over time
Clinical Signs:
Behavioral/Mental Awareness
Anxiety
Decreased responsiveness to verbal commands


Posture and Appearance
Wide-based stance
Altered tail carriage – tail down

Movement
Stiff gait 
Falling
Ataxia
Tetraparesis
Intention tremor
Inability to climb up or down stairs

Cranial Nerves
Decreased bilateral corneal reflex
Decreased/Absent bilateral menace response
Impaired vision

Special Functions (e.g. respiration; urination)
Vomiting
Inappetence​
Brain and spinal cord
Autosomal recessive inheritance - mutation in the HEXB gene
To read more about this disease click below:
References
Picture
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