Disease overview

Primary ciliary dyskinesia is a multisystem disease caused by a mutation in a gene that is required for function of motile cellular appendages called cilia. These cilia are located on respiratory cells, as well as the sperm.

Gene name

NME5

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs can have an increased susceptibility to respiratory infections with clinical signs such as recurrent nasal discharge and cough. Reduced fertility or infertility in males can be present.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Genetic testing is necessary to determine an underlying genetic cause.

Breeds at higher risk

Citations

Anderegg L, Im Hof Gut M, Hetzel U, Howerth EW, Leuthard F, Kyöstilä K, Lohi H, Pettitt L, Mellersh C, Minor KM, Mickelson JR, Batcher K, Bannasch D, Jagannathan V, Leeb T. NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genet. 2019 Sep 3;15(9):e1008378. doi: 10.1371/journal.pgen.1008378. PMID: 31479451; PMCID: PMC6743793.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.