Ciliary Dyskinesia

The word "dyskinesia" simply refers to a condition for which the symptoms are uncontrollable, tic-like and/or repetitive, compulsive movements. This covers a wide range of disorders from Tourette's syndrome to Parkinson's disease and akathisia (a condition resulting in the complete inability to remain still, often accompanied by intense feelings of anxiety or even dread).

The disorder known as tardive dyskinesia is caused by the side effects of medications used in the treatment of mental illness as well as certain digestive disorders. It is not congenital except in extremely rare cases. Although it primarily affects the orofacial muscles, it can also involve the limbs, digits and even the torso and hips, affecting gait and posture. Because the symptoms of tardive dyskinesia are so varied it can be mistaken for other types of disorders. One such condition is primary ciliary dyskinesia.

Symptoms of primary ciliary dyskinesia were first described in 1904, but the first formal study was not published until nearly 30 years later, appearing in a German medical journal on tuberculosis. Although the disease is considered a form of dyskinesia, it primarily affects the respiratory tract and sinuses. This includes the Eustachian tube which links the ear canal to the pharynx (upper throat) as well as the inner ear.

Cilia

Cilia are hair-like, moving organelles on the surface of cells, lining both the respiratory tract and the female's fallopian tubes. In the respiratory tract, the function of cilia is to rid the lungs of mucus and dirt. In fallopian tubes, these organelles facilitate the movement of the egg from the ovary to the uterus.

When the movement of cilia is impaired, the patient becomes more susceptible to a wide range of respiratory and ear infections. These may include:

Bronchitis
Hearing loss
Loss of smell
Otitis media ("glue ear," a middle ear infection)
Pneumonia
Sinusitis

In rare instances, patients may suffer ongoing headaches as well as a buildup of spinal fluid in the brain (hydrocephalus). The condition can also cause fertility issues since the absence of motility in fallopian tubes can prevent an egg from entering the womb. It also affects sperm motility in males.

Causes, Diagnosis and Treatment

Ciliary dyskinesia, which is also known as Kartagener syndrome, is a relatively rare genetic disorder that affects no more than .00015 percent of the population. According to some estimates, the rate may be as low as one in 32,000. As a genetic disorder, it actually develops in the womb. The fetus' cilia fails to develop properly and lacks the elements required in order to make motion possible.

Interestingly, the gene that is implicated in the development of ciliary dyskinesia appears to be connected to another disorder that appears in about 6 percent of these patients called situs ambiguus. Internal organs in these patients are arranged backwards, mirroring that of normal people. In short, the heart may be the right side rather than the left, the three-lobed lung may be on the opposite side, etc.

Cilial dyskinesia shares its root causes with a number of other genetic conditions that affect the cilia (known as ciliopathies). The symptoms of this condition are highly treatable if ciliary dyskinesia is diagnosed in childhood. Unfortunately, the symptoms are similar to many normal childhood illnesses, so the diagnosis is often missed until later in life, when more drastic treatments (including massive doses of antibiotics and, in extreme cases, a lung transplant) are necessary.

Sources

Cartwright et. al., "Fluid-Dynamical Basis of Embryonic Development of Left-Right Asymmetry in Vertebrates." Proceedings of the National Academy of Sciences of the United States of America, no. 101 (2004).
Ceccaldi, P.F. et. al. "Kartagener's Syndrome and Infertility: Observation, Diagnosis and Treatment." Journal of Gynecology, Obstetrics and Biological Reproduction, vol 33 no. 3 (2004).
Coren, M. et. al;. "Primary Ciliary Dyskinesia: Age at Diagnosis and Symptom History." Acta Paediatrica, vol. 91 no. 6 (1992).
Gardiner, Mary B. "The Importance of Being Cilia." Howard Hughes Medical Institute Bulletin, no. 18 (September 2005).
Kartagener M. "Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs Viscerum Inversus". Beitrage zur Klinik der Tuberkulose. vol. 83 (1933).

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