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Primary ciliary dyskinesia (PCD) is a genetic (inherited) disorder of the structure and/or function of cilia—tiny, microscopic moving structures that line the airways, ears, sinuses and some other structures. The sweeping, wave-like motion of cilia is important for keeping these areas clean and free from infection. Without properly functioning cilia, people with PCD are unable to protect their respiratory system. Frequent infections of the lungs, ears, throat, and sinuses are common and can lead to serious and permanent damage.
The motion of cilia is also thought to be important to organ placement in the developing fetus and people with PCD may have issues related to organ arrangement or placement, called situs inversus or situs ambiguous. Fertility can be impaired in PCD, as the sperm tails in males may also be immotile (unable to move) and ineffective ciliary activity in the fallopian tubesin females may interfere with egg transport.
It is estimated that as many as 25,000 Americans and 400,000 people worldwide suffer from PCD. There is no identified ‘at risk’ population in terms of race, ethnicity, heritage or gender. However, like with all recessively inherited disorders, there appears to be a higher incidence of PCD in cultures where marriage between close relatives is allowed or where the society is isolated by geographic (e.g. island areas) or cultural practices and the gene pool is small. PCD affects males and females equally. Because the diagnosis is difficult to make, only a small number of individuals with the disorder have been identified.
Without prompt diagnosis and aggressive treatment, people with PCD may sustain permanent damage to their lungs, ears, and sinuses.
PCD may also be called ‘Kartagener syndrome’ (only PCD with situs inversus) and immotile cilia syndrome. These terms all refer to the same genetic disorder. ‘Primary ciliary dyskinesia’ or PCD is the preferred name for the condition.
The PCD Foundation (PCDF) was established by patients and parents in 2002 to raise awareness of this disorder and promote research into better treatments and a cure for PCD.
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