Lipid Storage Diseases (LSD) is a group of metabolic diseases that are manifested by exercise intolerance or muscle weakness, sometimes accompanied by systemic findings, which develop in some stages of muscle contraction due to necessary lipid transfer or destruction pathways. Exercise intolerance in LSD can limit not only physical activity but also daily activities. In the literature, no study evaluated the activities of daily living in patients with LSD. The aim of this study was to investigate the effect of exercise capacity and daily living activities on the clinical features of LSD patients.
Pulmonary functions are affected negatively in Lipid Storage Diseases (LSD). It was shown that respiratory muscle strength and peak cough flow decreased in these cases. Other respiratory system problems can be listed as; diaphragmatic dysfunction, hypoxemia, and hypercapnia. Routine evaluation of respiratory function in LSD is recommended. A limited number of studies have shown that exercise tolerance is limited by the blockage of fat oxidation on the basis of muscle weakness and fatigue in LSD. Although the assessment of exercise capacity is also an important indicator of heart-lung capacity monitoring, exercise capacity is not routinely measured in patients with LSD. Exercise intolerance can limit not only physical activity but also daily activities. In the literature, the investigator's did not find any study evaluating the activities of daily living in patients with LSD. The aim of this study was to investigate the effect of exercise capacity and daily living activities on the clinical features of LSD patients.
Study Type
OBSERVATIONAL
Enrollment
25
Istanbul University
Istanbul, Turkey (Türkiye)
6 minutes walking test
Exercise capacity will be evaluated with 6 minutes walking test
Time frame: 1 day
Activity limitation (ACTIVLIM) questionnaire
Activities of daily living will be evaluated Activlim questionnaire. The questionnaire is consists of 22 questions. Minimum score is 0 and total score is 88. Higher scores indicate worse conditions.
Time frame: 1 day
Rivermead mobility index
Mobility will be evaluated with Rivermead mobility index. The questionnaire consists of 14 questions. Minimum score is 0, maximum score is 15. Higher scores indicate better conditions.
Time frame: 1 day
Hand held dinamometer
Hand held dinamometer will be used for the measurement of upper and lower muscle strength.
Time frame: 1 day
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