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Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia Causes

Primary ciliary dyskinesia is inherited in an autosomal recessive pattern of inheritance.

Primary Ciliary Dyskinesia Definition

Primary ciliary dyskinesia is a rare congenital disorder, which causes defect in the action of the tiny hair-like structures that lines the respiratory tract and fallopian tube. The disease is also known as immotile ciliary syndrome or Kartagener syndrome, a rare autosomal recessive disorder resulting to reduced or absent mucus clearance from the lungs increasing susceptibility to long-term respiratory infections.

Primary Ciliary Dyskinesia Diagnosis

Oscillometry can help calculate the ciliary movement frequency, motility quality and pattern.

Primary Ciliary Dyskinesia Symptoms and Signs

Due to impaired function of the cilia, infections like sinusitis, pneumonia, otitis media, and bronchitis are oftentimes manifested by individuals with primary ciliary dyskinesia. Hearing loss and poor sense of smell combines high mucus produced in the sinuses. Infertility is another symptom due to impaired ciliary function in the fallopian tube of an affected woman. Chronic headache, speech defects, low weight and difficulty in breathing are common symptoms of the disease. In some rare cases, hydrocephalus or buildup or spinal fluid in the brain may indicate primary ciliary dyskinesia.

Primary Ciliary Dyskinesia Treatment

Treatment is aimed at maintaining good condition and independence to control complications and improve the lifestyle of the individual suffering from primary ciliary dyskinesia. Breathing techniques can help protect the lungs against the effects of inflammation and infection. Antibiotics can help fight bacterial inflammations. Air pipe widener and mucus dilutors can help improve breathing.

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