Mitochondrial Myopathy
A metabolic mitochondrial myopathy resulting from a pyruvate dehydrogenase deficiency causes the inability to convert pyruvate to acetyl-CoA, which becomes the main source of cellular energy. This can lead to lactic acidosis in tissues.
Age of Onset: Early onset (few 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
Increased sleepiness
Posture and Appearance
Kyphotic stance
Movement
Exercise intolerance
“Stuff” hind limb gait
"Bunny hopping" gait
Overextension of the carpus
Resistance to extension of the neck
Muscle Atrophy
Generalized muscle atrophy
Other
Lactic and pyruvic acidemia
Mild cardiomegaly
Behavioral/Mental Awareness
Increased sleepiness
Posture and Appearance
Kyphotic stance
Movement
Exercise intolerance
“Stuff” hind limb gait
"Bunny hopping" gait
Overextension of the carpus
Resistance to extension of the neck
Muscle Atrophy
Generalized muscle atrophy
Other
Lactic and pyruvic acidemia
Mild cardiomegaly
Diffuse muscle
Autosomal recessive mutation in PDP1
For breed-specific genetic testing, follow the links below:
https://embarkvet.com/products/dog-health/health-conditions/pyruvate-dehydrogenase-deficiency/
https://www.genomia.cz/en/test/pdp1/
For breed-specific genetic testing, follow the links below:
https://embarkvet.com/products/dog-health/health-conditions/pyruvate-dehydrogenase-deficiency/
https://www.genomia.cz/en/test/pdp1/
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