Primary Ciliary Dyskinesia (Discovered in the Alaskan Malamute)

Primary ciliary dyskinesia (PCD) is a disorder that causes a defect in the formation of cilia, tiny hair-like projections, found on cells in the respiratory system, reproductive system, ear and nervous system. Clinical signs of PCD are recurrent infections of the respiratory tract and fertility problems.

Key Signs

Recurrent respiratory infections, Infertility, Hydrocephalus

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with PCD

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about PCD

Abnormal ciliary function leads to recurrent and chronic infections of the respiratory tract. Respiratory infections are first seen in young puppies a few days after birth and involve bilateral mucoid to mucopurulent nasal discharge and chronic productive cough. Respiratory infections can progress to bronchopneumonia and bronchiecstasis. Fertility problems may also be encountered and hydrocephalus has been reported as a possible clinical sign in this form of the disease. Recurrent ear infections have been reported for similar forms of this disease in humans and could be a feature, although not yet reported in the Alaskan Malamute.

Therapy is limited to symptomatic treatments for resulting infections and general supportive care.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the PCD mutation can be safely bred with a clear dog with no copies of the PCD mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the PCD mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the PCD mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene	NME5
Variant	Deletion
Chromosome	11
Coordinate Start	25,792,084
Coordinate End	0

All coordinates reference CanFam3.1

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References & Credit

Credit to our scientific colleagues:

Anderegg, L., Gut, M. I. H., Hetzel, U., Howerth, E. W., Leuthard, F., Kyöstilä, K., … Leeb, T. (2019). NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genetics, 15(9), 1–16. View the article