Primary Ciliary Dyskinesia, PCD
Primary Ciliary Dyskinesia (PCD) arises from a mutation in the STK36 gene, which is required for the function of motile cellular appendages such as sperm flagella and the cilia of respiratory tract cells. These appendages whip with directionality, allowing sperm to propel themselves towards an egg, and for respiratory tract cells to whip dust, bacteria, and mucus up towards the throat to be coughed out.
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Signs and symptoms
This disease can cause increased susceptibility to respiratory infections and, in male dogs, reduced fertility or infertility. A portion of affected dogs also have a condition called situs inversus, where the arrangement of their heart, liver, stomach, and other asymmetrically arranged organs are actually a mirror image of normal anatomy.
Respiratory infections can develop at anytime, however, male fertility can only be assessed after puberty.Uncover health risks with Embark
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Diagnosis
Genetic and laboratory testing are used to diagnose this condition. Radiography or ultrasound can be used to examine the location of organs.
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Treatment
There is no cure for PCD. Respiratory infections need to be treated promptly with the correct antibiotic.
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What to do if your dog is at risk
Actions
- Talk to your vet about your dog’s PCD result so you can work together to plan ongoing care and monitoring.
- Work closely with your vet to prevent and manage respiratory infections through regular checkups and prompt care if your dog becomes ill.
- Watch for signs of infection such as coughing, nasal discharge, or increased effort when breathing, and contact your vet if you notice any of these symptoms.
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Genetic Information
This mutation was first described in the Australian Shepherd.
This mutation is inherited in an autosomal recessive manner; that is, a dog requires two copies of the mutation to show signs of the disease.
Gene names:
STK36 Intron 19 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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