What question did this study set out to answer?

To describe a rare presentation of primary ciliary dyskinesia associated with a specific gene mutation.

May 15, 2026Open Access

A Rare Case of Primary Ciliary Dyskinesia with Atypical Presentation: A Case Report

SKShraddha KulkarniUnit for Research and Development of Information Products PPPriti PatilUnit for Research and Development of Information Products APAditi PadkiUnit for Research and Development of Information Products

Key Points

To describe a rare presentation of primary ciliary dyskinesia associated with a specific gene mutation.
Detailed assessment of a patient with primary ciliary dyskinesia due to DNAH5 gene mutation.
Medical treatment combined with physiotherapy techniques was employed.
The patient exhibited atypical symptoms typically not associated with primary ciliary dyskinesia.
Significant improvement was observed with the medical and physiotherapy interventions.

Abstract

A BSTRACT Primary ciliary dyskinesia (PCD) is characterized by dysfunction of motile cilia and flagella, with clinical representation similar to other chronic respiratory diseases. We report here a case of PCD due to DNAH5 gene mutation, treated medically and with the help of physiotherapy techniques.

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