Myopathy is one of hereditary diseases that cause deficiency of type 2 muscular fibers. First clinical signs are evident as early as 3 to 4 month of age. Clinical features in male and female pups include hypotonia, generalized muscle weakness, abnormal postures, stiff hopping gait, exercise intolerance and increased collapse when exposed to cold. There is evidence of skeletal muscle atrophy, particularly involving muscles of the head and tendinous areflexia. In all reported cases, histopathological evaluation of muscle biopsies has demonstrated a characteristic centralization of myonuclei, often located in areas devoid of myofibrils with mitochondrial aggregation.  

Inheritance: autosomal recessive - read more

Mutation: PTPLA gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.