Immotile Cilia Syndromes (ICS) refer to a group of inherited disorders characterized by malfunctioning or non-functioning cilia, specifically in the respiratory tract, fallopian tubes, and brain ventricles. Cilia are microscopic, hair-like structures that protrude from cells and play crucial roles in various physiological processes such as supporting cellular movement and facilitating the clearance of mucus and debris from the airways.
In individuals with Immotile Cilia Syndromes, the cilia are either immotile (don't move) or have impaired movement due to structural defects or abnormalities in the underlying molecular machinery. This compromised function results in the inability of the cilia to efficiently perform their tasks, leading to a range of symptoms and complications.
Common features of Immotile Cilia Syndromes include chronic respiratory infections, such as bronchitis and pneumonia, recurrent ear infections, chronic sinusitis, reduced fertility in males due to impaired sperm motility, and hydrocephalus resulting from impaired cerebrospinal fluid circulation.
ICS is primarily an autosomal recessive disorder, meaning it occurs when an individual inherits two copies of the mutated gene, one from each parent. Several genes have been associated with Immotile Cilia Syndromes, including DNAH5, DNAI1, DNAI2, and CCDC40, among others. These mutations disrupt the structure or function of the proteins involved in ciliary movement, leading to the characteristic symptoms of the syndrome.
Diagnosis of Immotile Cilia Syndromes typically involves a thorough clinical evaluation, assessment of symptoms, and specialized tests, such as nasal scrape or biopsy to evaluate ciliary structure and function. While there is currently no cure for ICS, management involves symptom-specific treatments and respiratory care to minimize
