What are the symptoms of Immotile cilia syndrome?
The signs and symptoms of primary ciliary dyskinesia vary, but may include:
- Neonatal respiratory distress.
- Frequent respiratory infections that can lead to severe lung damage.
- Chronic nasal congestion.
- Frequent sinus infections.
- Recurrent middle ear infections, particularly in early childhood.
- Hearing loss.
- Hydrocephalus.
What is the cause of Immotile cilia syndrome?
Mutations in the genes that cause primary ciliary dyskinesia result in defective cilia that move abnormally or are unable to move (immotile). Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms.
What is Kartagener’s syndrome and what causes it?
Kartagener’s syndrome is a rare hereditary disease. It’s caused by a mutation that can occur on many different genes. It’s autosomal recessive, which means you must inherit a mutated gene from both of your parents to develop it.
What happens in Immotile cilia?
The immotile-cilia syndrome is a congenital disorder characterized by all the cilia in the body being either immotile or showing an abnormal and inefficient beating pattern. Most symptoms come from the ciliated airways (nose, paranasal sinuses, and bronchs) and from the middle ear.
What is the life expectancy of someone with PCD?
Prognosis in PCD is good, with a normal life expectancy [12]. Diagnosis of PCD can be problematic, with wide variation in symptoms and scarcity of diagnostic facilities [4]. Age at presentation in one study varied from 4 months to 51 years [13].
What is the underlying defect of Kartagener’s Syndrome?
Kartagener’s syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad of situs inversus, chronic sinusitis, and bronchiectasis. The basic problem lies in the defective movement of cilia, leading to recurrent chest infections, ear/nose/throat symptoms, and infertility.
How common is ciliary dyskinesia?
Primary ciliary dyskinesia occurs in approximately 1 in 16,000 to 20,000 births. That translates to the incidence of Kartagener syndrome as 1 in 32,000 to 40,000 births.