Primary ciliary dyskinesia

Immotile Cilia Syndrome


Type of disease: Rare conditions

Primary ciliary dyskinesia is a genetic disease which affects the upper and lower airways of the lungs. Through an inherited defective gene, the cilia (tiny hair-like structures that move mucus out of the respiratory passages) in individuals affected by this condition are either immotile (unable to move) or dysmotile (they move incorrectly). As a result, the body is not able to keep the lungs and sinuses clear of fluids, which can lead to congestion, infection, and various other complications. Because cilia are also present in the brain and reproductive organs, individuals with primary ciliary dyskinesia may also have chronic headaches, hydrocephalus and infertility.   Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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