Description: This disease is a genetically determined defect in muscle fiber development. This was detected in Labrador Retrievers in Europe, Australia, the USA, and Canada. A causal mutation is SINE insertion in exon 2 of the PTPLA gene (protein tyrosine phosphatase-like member A). Symptoms of the disease: Immediately after birth in puppies are not observed symptoms, they are indistinguishable from healthy individuals. Progressive weight loss has been observed since approximately two weeks of age. At one month of age, affected individuals have a lack of tendon reflexes, which is suitable for early diagnosis. Gradually, muscle atrophy develops, which is manifested by a very stiff posture, a very shaky gait if the individual is even able to walk or reduced exercise tolerance. Muscular atrophy gradually affects the muscles of swallow, which may result in inhalation of food and recurrent pulmonary inflammation. This disease is incurable, so the affected individuals are euthanized.
Inheritance: autosomal recessive
Mutation: SINE insertion in exon 2 of the PTPLA gene (protein tyrosine phosphatase-like member A)
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Labrador retriever