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Description

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: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: read more

Affected breeds: Old English Sheepdog (Bobtail).

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

 

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