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

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.