Which syndrome is characterized by dynein arm defects that affect cilia, leading to respiratory issues and infertility?

The condition characterized by dynein arm defects that affect cilia, leading to respiratory issues and infertility, is primarily known as Kartagener's syndrome. This syndrome is a specific subset of primary ciliary dyskinesia, where individuals exhibit a triad of symptoms: bronchiectasis due to impaired mucociliary clearance, recurrent respiratory infections, and situs inversus, which is a reversal of the normal positioning of the internal organs.

In Kartagener's syndrome, the defect in the dynein arms of cilia results in ineffective ciliary movement, which is crucial for clearing mucus and pathogens from the respiratory tract. Therefore, patients often experience chronic respiratory problems, which can lead to complications such as pneumonia and bronchiectasis. Additionally, the same ciliary dysfunction leads to fertility issues in both males and females, as the motility of sperm and the movement of ova through the fallopian tubes are impaired.

While primary ciliary dyskinesia encompasses a broader range of conditions where ciliary function is disrupted, Kartagener's syndrome is specifically noted for the combination of respiratory issues and situs inversus, making it the distinguishing diagnosis when these symptoms are present together.

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