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Gangliosidosis Type 1 (GM1)​
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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Gangliosidosis (GM1) is a deficiency in the enzyme beta-galactosidase which causes defects in the catabolism of gangliosides resulting in their accumulation in neuron lysosomes.
Age of Onset: Less than 7 months of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
​​Clinical signs worsen over time
Clinical Signs:
Posture and Appearance
Stunted growth

Movement
 

Ataxia
Dysmetria
Hypermetria
Head Tremor
Spastic Paraplegia or Tetraplegia
 
Cranial Nerves 
Visual Impairment
Nystagmus
Decreased cranial nerve responses


Other 
Blood smear (vacuolated leukocytes)
Radiographs (irregularly widended intervertebral disc space and femoral head abnormalities)
​
Diffuse CNS
Autosomal recessive mutation in the Beta-Galactosidase gene
To read more about this disease click below:
References
Picture
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