Immotile cilia syndrome, also known as primary ciliary dyskinesia (PCD), is a rare genetic disorder characterized by the dysfunction or absence of cilia. Cilia are tiny, hair-like structures present on the surface of cells lining the respiratory tract, fallopian tubes, and other parts of the body. These cilia play a crucial role in facilitating the movement of mucus, particles, and fluid across these surfaces.
In immotile cilia syndrome, the cilia are either immotile (unable to move) or their movement is severely impaired. As a result, individuals with this condition experience chronic respiratory infections, such as bronchiectasis, sinusitis, and recurrent ear infections. The impaired ciliary function also affects the movement of sperm cells in males, leading to infertility. In addition, individuals may exhibit laterality defects, including situs inversus (reversal of organ arrangement) or situs ambiguous (irregular organ placement).
Immotile cilia syndrome is caused by mutations in genes involved in ciliary structure or function. These genetic abnormalities result in defective cilia formation, impaired movement, or abnormal ciliary beating. The condition is typically inherited in an autosomal recessive manner, meaning an affected individual must inherit two copies of the mutation (one from each parent) to develop the syndrome.
Diagnosis of immotile cilia syndrome involves specialized tests, such as nasal nitric oxide measurement, electron microscopy, and genetic testing. Treatment mainly focuses on managing the symptoms and preventing complications. This may include respiratory therapies, antibiotics to treat infections, and fertility options for those affected by infertility. Genetic counseling is important for affected individuals and their families to understand the inheritance pattern and assess the risk of passing on the condition to future generations.
