Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by abnormally functioning cilia. The main clinical signs are recurrent or persistent respiratory infections because of the lack of effective ciliary motility. Other clinical signs include left-right body asymmetry due to disruption of embryonic development and impaired male fertility due to defects of the spermatozoa flagella.

Primary ciliary dyskinesia (PCD) is an early onset disease, as clinical signs can be seen at birth or short after birth. Affected dogs might be misdiagnosed as cases of aspiration pneumonia, or neonatal respiratory virus infection, which might contribute to an underestimation of the disease.

Inheritance: autosomal recessive - read more

Mutation: CCDC39 gene

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

Disease control: read more

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