Muscle Function, Exercise Capacity and Physical Activity Level in Primary Ciliary Dyskinesia and Kartagener Syndrome
Condition: Primary Ciliary Dyskinesia
MeSH terms: Ciliary Motility Disorders; Kartagener Syndrome; Dyskinesias
Study type: Observational

Summary: 
      Studies evaluating respiratory and peripheral muscle functions in PCD patients and comparing
      them with healthy children are limited in the literature. There is no study investigating
      pulmonary and extrapulmonary effects in Kartagener syndrome, which is a form of PCD. The aim
      of our study is to compare respiratory functions, respiratory muscle strength and endurance,
      exercise capacity, peripheral muscle strength, physical activity level and quality of life in
      patients with PCD, Kartagener syndrome and healthy children.
    

Detailed description: 
      Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by abnormal
      ciliary movement and impaired mucociliary clearance. Kartagener syndrome is an autosomal
      recessive primary ciliary dyskinesia syndrome characterized by situs inversus, bronchiectasis
      and chronic sinusitis and is the most serious form of PCD, accounting for 50% of all PCD
      cases. In these syndromes, there is both movement and structural defect in the cilia, and
      mucociliary clearance is impaired. Symptoms usually appear in childhood. Organ anomalies can
      also be seen in Kartagener syndrome. Primary ciliary dyskinesia is a disease that threatens
      lung functions starting from preschool age. One of the main causes of respiratory muscle
      weakness in chronic lung diseases is worsening of lung functions. Evaluation of exercise
      capacity in patients with PCD has prognostic importance. Decreased exercise capacity,
      respiratory function, and cardiopulmonary function cause physical inactivity. In chronic lung
      diseases, sedentary lifestyle, airway obstruction, malnutrition and decreased exercise
      capacity cause muscle weakness. Muscle strength and function are important for performing
      activities of daily living. There is no study in the literature comparing respiratory and
      physical functions in children with PCD and in children with Kartagener's syndrome, which is
      the most serious form of PCD. The aim of our study is to compare respiratory functions,
      respiratory muscle strength and endurance, exercise capacity, peripheral muscle strength,
      physical activity level and quality of life in patients with PCD, Kartagener syndrome and
      healthy children.

      The study was planned as a cross-sectional, retrospective. Individuals aged 6-18 years, who
      were diagnosed with PCD and Kartagener syndrome, and received standard medical treatment,
      were included in the study. For the healthy group, individuals aged 6-18 years without a
      known chronic disease were included. Individuals' exercise capacity, respiratory functions,
      physical activity levels, peripheral and respiratory muscle strength, respiratory muscle
      endurance and quality of life will be evaluated. Exercise capacity evaluated using six-minute
      walk test, physical activity using multi-sensor activity monitor, pulmonary function using
      spirometry, respiratory muscle strength using mouth pressure device, peripheral muscle
      strength using hand-held dynamometer, respiratory muscle endurance using incremental
      threshold loading test, life quality using "The Primary Ciliary Dyskinesia Quality of Life
      scale" (Turkish version). The assessments will be completed in two days.
    

Observational model: Other
Time perspective: Retrospective
Sampling method: Non-Probability Sample
Study population: 
        Forty patients with primary ciliary dyskinesia/Kartagener's Syndrome were recruited. It
        also has 60 healthy data.
      
Keywords: primary ciliary dyskinesia; exercise capacity; muscle strength; physical activity