Balance Impairment, Muscle Oxygenation, and Functional Exercise Capacity in Patients With Primary Ciliary Dyskinesia

Area of Science:

• Pulmonary Medicine
• Exercise Physiology
• Genetics

Background:

• Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function.
• Extrapulmonary manifestations of PCD, particularly concerning balance and muscle oxygenation during exercise, are understudied.
• This research addresses the need for a comprehensive evaluation of non-respiratory aspects in PCD patients.

Purpose of the Study:

• To compare balance, functional exercise capacity, muscle oxygenation, and muscle strength between patients with PCD and healthy individuals.
• To evaluate respiratory muscle strength and inspiratory muscle endurance in both groups.
• To identify specific functional deficits in PCD patients beyond respiratory symptoms.

Main Methods:

• A comparative study involving 27 patients with PCD and 26 healthy controls.
• Assessment of balance using the Biodex Balance System and Y Balance Test.
• Measurement of exercise capacity via the 6-min walk test (6MWT) and muscle oxygenation using a Moxy device.

Main Results:

• Patients with PCD demonstrated significantly lower scores in dynamic balance tests (Y balance) and reduced 6MWT distances.
• Lower extremity muscle strength was diminished in the PCD group compared to controls.
• A greater reduction in quadriceps femoris muscle oxygenation (ΔSmO_2averaged) was observed during submaximal exercise in PCD patients.

Conclusions:

• Dynamic balance, functional exercise capacity, and lower extremity strength are impaired in PCD.
• Respiratory muscle strength and static balance appear preserved, while inspiratory muscle endurance is similarly reduced in both groups.
• The findings underscore the importance of assessing balance and muscle oxygenation in PCD, informing rehabilitation and research strategies.