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Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells, known as cilia. Cilia are present on many types of cells, and particularly on those in the respiratory tract

Prevalence

N/A

US Estimated

N/A

Europe Estimated

Age of Onset

Neonatal

ICD-10

Q34.8

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of cilia, microscopic hair-like structures that play a crucial role in moving mucus and particles out of the respiratory tract, reproductive tract, and other organs

FACT

In some cases, individuals with PCD may have situs inversus, a condition where the organs in the chest and abdomen are mirrored from their normal positions

FACT

Common symptoms include chronic respiratory infections, chronic cough, sinusitis, and infertility due to impaired function of cilia in the reproductive organs

FACT

Diagnosis involves specialized tests, such as high-speed video microscopy and genetic testing, to assess ciliary function and identify genetic mutations

FACT

Treatment focuses on managing symptoms, including respiratory and sinus infections, and may involve airway clearance techniques and antibiotics. PCD is a lifelong condition, and management is often multidisciplinary, involving pulmonologists, otolaryngologists, and other specialists

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