Supine volume drop and diaphragmatic function in adults with Pompe disease: Table 1–
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چکیده
منابع مشابه
Supine volume drop and diaphragmatic function in adults with Pompe disease.
The onset of the adult form of Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a slow progressive muscular disorder in which little correlation exists between respiratory function and locomotor function [1]. The greater degree of respiratory dysfunction, compared with mobility loss, is mainly ascribable to the predominant and progressive involvement ...
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BACKGROUND Pompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to progressive pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness is considered to be the most important component. Standard spirometry is to some extent indicative but provides too little insight into diaphragmatic dynamics. We used lung MRI to study diaphragmatic ...
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BACKGROUND Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid alpha- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure. Although Pompe disease is often included in the differential diagnosis of LV hypertrophy the true frequency of cardiac involvement in adults with Pompe...
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BACKGROUND Pompe disease is a hereditary metabolic myopathy, for which enzyme replacement therapy (ERT) has been available since 2006. We investigated whether ERT reduces fatigue in adult patients with Pompe disease. METHODS In this prospective international observational survey, we used the Fatigue Severity Scale (FSS) to measure fatigue. Repeated measures ANOVA was used to analyze the data ...
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Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a more severe and rapid course of the disease. They require more intensive foll...
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ژورنال
عنوان ژورنال: European Respiratory Journal
سال: 2012
ISSN: 0903-1936,1399-3003
DOI: 10.1183/09031936.00169011