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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Primary ciliary dyskinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Recurrent respiratory infections 90%

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. October 6, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1122/. Accessed 3/15/2011.


Other Names for this Disease
  • Ciliary dyskinesia primary
  • ICS
  • Immotile cilia syndrome
  • Polynesian bronchiectasis
  • Polynesian bronchiectasis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.