Primary Ciliary Dyskinesia, PCD

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.

Genetic and laboratory testing are used to diagnose this condition. Radiography or ultrasound can be used to examine the location of organs.

There is no cure for PCD. Respiratory infections need to be treated promptly with the correct antibiotic.

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.

This mutation was first described in the Australian Shepherd.

Penetrance: 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

STK36 Intron 19

Inheritance type

recessive

Clinical category

Multisystem

Citations

1. Christen et al 2023

• Australian Shepherd
• Miniature/MAS-type Australian Shepherd