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Primary Ciliary Dyskinesia: Symptoms & Diagnosis

Instructor: Brenda Steadham

Brenda has worked with K-12 students in life science, chemistry, and language arts. She holds a master's degree in Biological Sciences from Clemson University.

Primary ciliary dyskinesia is heritable disease that effects how cilia and flagella are able to move and work. In this lesson, find out the common symptoms associated with primary ciliary dyskinesia, and learn the how the disease is diagnosed.

What is Primary Ciliary Dyskinesia?

Primary Ciliary Dyskinesia, or PCD, is an autosomal recessive disease in which the cilia and flagella do not move properly, or at all. Cilia and flagella are motorized, hair-like structures that move. Cilia move in a back-and-forth wavelike motion. Alternately, flagella move in a circular pattern like a propeller.

Comparison of cilia and flagella movement.
cilia/flagella motion

The coordinated motion of cilia help regulate the flow of fluid and material in the lungs and sinuses, central nervous system, ears, female reproductive tract, and help to arrange internal organs during embryo development. In males, flagella propel the sperm toward the egg. In an individual with primary ciliary dyskinesia, the most commonly affected areas are the ears, lungs and sinuses.

Common areas affected by PCD
PCD

Additionally, in people with PCD, it is very common for some or all of the internal organs to be mirrored (reversed placement). This is due to poor cilia movement during development; this condition is known as situ inversus totalis or Kartagener syndrome.

The normal position of internal organs can be seen in the photo on the left. In the photo to the right, the individual has situ inversus totalis; note the reversed placement of the internal organs.
Situ inversus

Lungs and Sinuses

The synchronized movement of cilia within the lungs and sinuses moves mucus and secretions up for removal. When the cilia fail to function, it can result in a build up of fluid in the lungs and sinus cavities, thus creating an ideal breeding ground for bacteria. Common lung symptoms exhibited in PCD include: recurrent lung infections, chronic bronchitis (coughing), shortness of breath, poor oxygenation, and bronchiectasis. When the sinuses are affected, symptoms can include: chronic sinusitis, sinus infections, and persistent, cold-like nasal symptoms.

Central Nervous System

The central nervous system, or CNS, consists of the brain and spinal cord. Within this system, cerebrospinal fluid is continuously being made. The cilia in the brain help regulate fluid pressure by working to move the liquid away from the central region of the brain. In primary ciliary dyskinesia, fluid levels can build up. As a result, brain tissue can become distorted and its function is altered. This condition is known as Hydrocephalus-a Greek term meaning 'water head' .

MRI comparison of normal and hydrocephalic brains. In the above left photo, the darkened area represents a build up of fluid.
MRI

Symptoms of hydrocephaly include:

Neurological Digestive and Urinary Movement
Increased sleepiness/fatigue Nausea Altered pattern of walking (gait)
Seizures Vomiting Poor coordination
Headaches Loss of bladder control Generalized slowing of arm/leg movement
Vision disturbances Sensation of walking through quicksand Increased need to urinate (urinary frequency)
Unusual eye positioning Feeling that feet are glued or stuck in place
Progressive loss of mental functions
Abnormal mental development in children
Increase in head circumference (occurs in infants)

Increased head circumference due to Infantile Hydrocephalus
hydrocephalus

Ears

As new fluid is produced within the ear, the movement of the cilia forces the existing fluid down through the Eustachian tube; the tube allows for the fluid to leave the ear and drain into the throat. Similar to the lungs and sinuses, when the fluid builds, conditions become ideal for bacterial growth. Poor functioning cilia within the ear can result in chronic earaches, frequent ear infections, and in extreme cases, bursting of the eardrum. Recurrent ear infections can result in diminished or permanent hearing loss.

Reproductive Issues

In women, cilia are used in the reproductive system to help move the egg. In individuals with primary ciliary dyskinesia, the egg fails to move forward to meet the sperm. This can result in inability to conceive. In some instances, when the egg is fertilized and fails to be transported to the proper site, an ectopic pregnancy (pregnancy outside the womb) can result. In men, the sperm must be able to reach the egg. In the case of PCD, poor working flagella decrease the sperm's chances of reaching the egg in a timely fashion (before sperm's death). As a result, chances of conception are diminished. When all flagella are immotile, the individual is completely infertile.

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