Primary ciliary dyskinesia (PCD)

General description

Primary ciliary dyskinesia (PCD) causes impaired movement of cilia and subsequent health problems in diverse organ systems, notably the respiratory tract.

Breeds

Alaskan Malamute, Australian Shepherd, Miniature American Shepherd, Old English Sheepdog

Primary Ciliary Dyskinesia - Alaskan Malamute

In the Alaskan Malamute breed, a genetic variant of the NME5 gene leads to recurrent respiratory tract infections with runny nose and severe coughing. In addition, the disease causes reduced fertility, as the epithelium of the reproductive tract, and thus the transport of eggs to the uterus, as well as sperm motility, are also impaired. In some cases, affected dogs of this breed can also develop hydrocephalus.

Primary Ciliary Dyskinesia - Old English Sheepdog

In the breed Old English Sheepdog, a variant of the CCDC39 gene correlates with PCD. In affected dogs, there are recurrent respiratory infections. Because cilia are also located on the sperm, affected dogs of this breed also have reduced fertility. In addition, approximately 50% of dogs affected by PCD develop situs inverus (Cartagener syndrome), a mirrored position of the internal organs due to a disturbance in early embryonic development.

Primary Ciliary Dyskinesia - Australian Shepherd, Miniature American Shepherd

In the breeds Australian Sheperd and Miniature American Sheperd, a genetic variant of the STK36 gene has been found to be associated with PCD. Affected dugs suffer from recurrent rhinitis and nasal discharge, already a few weeks after birth. Symptoms are sneezing and yellow-greenish nasal discharge, which improve after treatment with antibiotics but recur after discontinuation of the treatment.