Glycogenosis Type II (Pompe Disease)
Glycogenosis Type II causes a deficiency in the enzyme acid a-glucosidase which causes defects in the catabolism of glycogen resulting in its accumulation in neuron lysosomes and cytoplasm.
Age of Onset: 4-12 months 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
“Apathetic habitus”
Posture and Appearance
Loss of condition
Movement
Muscle weakness
Cranial Nerves
Dysphonia
Special Functions (e.g. respiration; urination)
Esophageal dilation induced vomiting
Other
Clinical heart disease
Myocardial hypertrophy
Behavioral/Mental Awareness
“Apathetic habitus”
Posture and Appearance
Loss of condition
Movement
Muscle weakness
Cranial Nerves
Dysphonia
Special Functions (e.g. respiration; urination)
Esophageal dilation induced vomiting
Other
Clinical heart disease
Myocardial hypertrophy
Brain and spinal cord
Autosomal recessive inheritance of nonsense mutation in the acid a-glucosidase
For breed-specific genetic testing, click the link(s) below:
https://www.genomia.cz/en/test/gsdii/
For breed-specific genetic testing, click the link(s) below:
https://www.genomia.cz/en/test/gsdii/
To read more about this disease click below:
