Primary Ciliary Dyskinesia

Also known as

  • PCD
  • Immotile Ciliary Syndrome

Primary Ciliary Dyskinesia (PCD) is an inherited, relatively rare condition associated with the abnormality of cilia (microscopic hairs that beat in the airways, sweeping secretions out of the respiratory tract). PCD may affect the lungs, nose, sinuses, ears and fertility.

Condition details

The condition involves recurrent infections in the nose, ears, sinuses and lungs. If left untreated can lead to a form of lung damage known as ‘bronchiectasis’. Up to 50% of patients with PCD also have dextrocardia (heart on the right side) and situs inversus (internal organs on opposite side to normal). The mainstay of treatment is chest physiotherapy and targeted antibiotics enabling individuals to lead normal lives. Any problems resulting from PCD vary from person to person.

I would like to edit or add detail to this database entry

Photos of affected individuals

Click images to enlarge.

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
Toddler
Lay terms Clinical terms
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
Child 4-10
Lay terms Clinical terms
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
Child 10-18
Lay terms Clinical terms
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
  • immobility of sperm can lead to infertility
  • dysfunction of the oviduct cilia
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
  • immobility of sperm can lead to infertility
  • dysfunction of the oviduct cilia
Adult
Lay terms Clinical terms
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
  • immobility of sperm can lead to infertility
  • dysfunction of the oviduct cilia
  • reduced or absent mucus clearance from the lungs
  • susceptibility to chronic recurrent respiratory infections
  • progressive damage to the respiratory system
  • hearing loss
  • poor sense of smell
  • high mucus production in the sinuses
  • immobility of sperm can lead to infertility
  • dysfunction of the oviduct cilia

Affected genes identified to date

  • C21ORF59
  • ARMC4
  • CCDC103
  • CCDC114
  • CCDC164
  • CCDC39
  • CCDC40
  • CCDC65
  • DNAAF2
  • DNAAF3
  • DNAH11
  • DNAH5
  • DNAI1
  • DNAI2
  • DNAL1
  • DYX1C1
  • HEATR2
  • HYDIN
  • LRRC50
  • LRRC6
  • RPGR
  • RSPH1
  • RSPH4A
  • RSPH9
  • SPAG1
  • NME8
  • ZMYND10

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

No

How many are affected?

1 in 15,000 Europeans. The incidences are higher in certain populations where consanguineous marriages are customary and those isolated for cultural geographical reasons.

Support groups and organisations

Mrs Fiona Copeland
PCD Family Support Group
15 Shuttleworth
Wavendon Gate
Milton Keynes
Bucks
MK7 7RX
United Kingdom
Tel 03001110122
Facebook

Known experts

No experts found

I would like to edit or add detail to this database entry

Please let us know more about you

In order to allow you to edit this form, please fill in the fields below and click submit to proceed to to the editing page.

used only if we have questions about your entry.

Share this page

Welcome to the GDUK network

If this is the first time you have searched for information on a particular condition, details you find here may be distressing.

» If you would rather read our Newly Diagnosed section for parents and carers first click here