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In immotile cilia syndrome (ICS), respiratory symptoms show a wide range of severity. Various types of axonemal abnormalities related to ICS are known, but it is unclear whether the symptom severity is related to the type of abnormality. We sent a questionnaire concerning respiratory symptoms to ICS patients. Another type of the questionnaire regarding the clinical features and axonemal abnormality of ICS was sent to the physicians in charge. Analysis of the results showed that in the 48 patients responding, those lacking outer dynein arms (LO) in cilia were more likely to be associated with situs inversus (SI) than those lacking inner dynein arms (LI). Sputum symptoms were more serious in those associated with SI than those unassociated with SI, as was the case in those associated with LO compared to those with LI. Based on these results, it may be concluded that the type of dynein arm defect in cilia is related to the clinical features in ICS.

Reflection of Structural Abnormality in the Axoneme of Respiratory Cilia in the Clinical Features of Immotile Cilia Syndrome.