Primary ciliary dyskinesia is an inherited genetic condition that causes abnormal cilia and flagella on cells, which prevents the clearance of mucous from the lungs, sinuses, and middle ears.
Symptoms include chronic respiratory tract infections, abnormally positioned internal organs, and infertility. Infants with primary ciliary dyskinesia experience breathing problems at birth. Other symptoms include year-round nasal congestion and a chronic cough, as well as recurrent ear infections. Chronic respiratory tract infection can result in bronchiectasis, which damages the bronchi and can cause life threatening breathing problems. Rarely, affected individuals can have an accumulation of fluid in the brain (hydrocephalus) from abnormal cilia in the brain. Treatment for this disorder includes airway clearance therapy to keep the lung tissue healthy for as long as possible.
This condition is caused by pathogenic (disease-causing) variants in the DNAI1 gene. DNAI1-related primary ciliary dyskinesia exhibits autosomal recessive inheritance, which means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Carriers typically do not experience any symptoms of the disorder.
Another name for this condition is immotile cilia syndrome.
Resources:
National Organization for Rare Disorders (NORD)
Revised August 2022
