Daily Living Activities and Exercise Capacity in Lipid Storage Diseases

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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The Investigation of Daily Living Activities and Exercise Capacity in Lipid Storage Diseases

Conditions
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Lipid Storage Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Being diagnosed with Lipid storage disease clinically and histopathologically. Exclusion Criteria: Severe pulmonary parenchymal disease, Cardiac problems Renal or hepatic dysfunction Uncontrolled hypothyroidism Acute infection Malignancy

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 6 minutes walking test | Exercise capacity will be evaluated with 6 minutes walking test | 1 day | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 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. | 1 day | 
| Hand held dinamometer | Hand held dinamometer will be used for the measurement of upper and lower muscle strength. | 1 day | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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activities of daily living, exercise capacity