دورية أكاديمية
Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease
| العنوان: | Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease |
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| المؤلفون: | Matthias Boentert, Hélène Prigent, Katalin Várdi, Harrison N. Jones, Uwe Mellies, Anita K. Simonds, Stephan Wenninger, Emilia Barrot Cortés, Marco Confalonieri |
| المصدر: | International Journal of Molecular Sciences, Vol 17, Iss 10, p 1735 (2016) |
| بيانات النشر: | MDPI AG, 2016. |
| سنة النشر: | 2016 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | neuromuscular disorders, Pompe disease, respiratory muscle weakness, mechanical ventilation, cough assistance, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness. Progressive respiratory muscle weakness is a major cause of morbidity and mortality in late-onset Pompe disease even if enzyme replacement therapy has been established. Practical knowledge of how to detect, monitor and manage respiratory muscle involvement is crucial for optimal patient care. A multidisciplinary approach combining the expertise of neurologists, pulmonologists, and intensive care specialists is needed. Based on the authors’ own experience in over 200 patients, this article conveys expert recommendations for the diagnosis and management of respiratory muscle weakness and its sequelae in late-onset Pompe disease. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 17101735 |
| العلاقة: | http://www.mdpi.com/1422-0067/17/10/1735Test; https://doaj.org/toc/1422-0067Test |
| DOI: | 10.3390/ijms17101735 |
| الوصول الحر: | https://doaj.org/article/56eecea37b484bc384fa4828a35eb60cTest |
| رقم الانضمام: | edsdoj.56eecea37b484bc384fa4828a35eb60c |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 17101735 |
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| DOI: | 10.3390/ijms17101735 |