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Genetic and Rare Diseases Information Center (GARD)

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Primary ciliary dyskinesia

Other Names for this Disease
  • Ciliary dyskinesia primary
  • ICS
  • Immotile cilia syndrome
  • Polynesian bronchiectasis
  • Polynesian bronchiectasis
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What are the signs and symptoms of primary ciliary dyskinesia?

Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic oto-sino-pulmonary disease. More than 75% of full-term infants with primary ciliary dyskinesia have 'neonatal respiratory distress' requiring supplemental oxygen. Chronic airway infections begin in early childhood, resulting in bronchiectasis that is almost uniformly present into adulthood. Nasal congestion and sinus infections also begin in early childhood and persist through adulthood. Chronic/recurrent ear infections are present in most young children and can lead to transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 50% of individuals with primary ciliary dyskinesia; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 6%. Approximately 50% of males with primary ciliary dyskinesia are infertile as a result of abnormal sperm motility.[1]
Last updated: 3/15/2011

  1. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. October 6, 2009; Accessed 3/15/2011.