Daily Living Activities and Exercise Capacity in Lipid Storage Diseases
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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.
Condition or disease
Lipid Storage Disease
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.
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Layout table for eligibility information
Ages Eligible for Study:
18 Years to 60 Years (Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
25 patients who were diagnosed with Lipid Storage Disease at Istanbul University Istanbul Medical Faculty Neurology and Chest Diseases Departments will be invited to the study. The study will be continued in Istanbul University, Istanbul Faculty of Medicine, Department of Chest Diseases.
Being diagnosed with Lipid storage disease clinically and histopathologically.