مراجعة
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: | Boentert, Matthias, Prigent, Helene, Vardi, Katalin, Jones, Harrison N., Mellies, Uwe, Simonds, Anita K., Wenninger, Stephan, Cortes, Emilia Barrot, Confalonieri, Marco |
| المساهمون: | Boentert, Matthias Munster Univ Hosp, Dept Sleep Med & Neuromuscular Disorders, D-48149 Munster, Germany, Prigent, Helene Raymond Poincare Univ Hosp, Dept Physiol, F-92380 Garches, France, Prigent, Helene Raymond Poincare Univ Hosp, Neuromuscular Home Ventilat Unit, F-92380 Garches, France, Vardi, Katalin Torokbalint Chest Hosp, Resp Rehabil & Sleep Ctr, H-2045 Torokbalint, Hungary, Jones, Harrison N. Duke Univ, Dept Surg, Div Speech Pathol & Audiol, Durham, NC 27710 USA, Mellies, Uwe Univ Duisburg Essen, Dept Pediat Pulmonol & Sleep Med, Childrens Hosp, D-45147 Essen, Germany, Simonds, Anita K. Royal Brompton & Harefield NHS Fdn Trust, Acad & Clin Dept Sleep & Breathing, London SW3 6NP, England, Wenninger, Stephan Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, D-80336 Munich, Germany, Cortes, Emilia Barrot Univ Hosp Virgen del Rocio, Med Surg Unit Resp Dis, Seville 41013, Spain, Confalonieri, Marco Univ Hosp Cattinara, Dept Pulmonol, I-34149 Trieste, Italy, Sanofi-Genzyme Corp./Genzyme Europe B. V., Naarden, The Netherlands |
| بيانات النشر: | Mdpi |
| سنة النشر: | 2016 |
| المجموعة: | Sistema Sanitario Público de Andalucía (SSPA): Repositorio |
| مصطلحات موضوعية: | neuromuscular disorders, Pompe disease, respiratory muscle weakness, mechanical ventilation, cough assistance, Polysomnographic findings, Lung-function, Training rmt, Failure, Predictors, Symptoms, Hypoventilation, Progression, Hypercapnia, Prevalence |
| 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: | review |
| اللغة: | English |
| تدمد: | 1422-0067 |
| العلاقة: | http://hdl.handle.net/10668/19272Test; https://www.mdpi.com/1422-0067/17/10/1735/pdf?version=1476701833Test; 387768300055 |
| DOI: | 10.3390/ijms17101735 |
| الإتاحة: | https://doi.org/10.3390/ijms17101735Test http://hdl.handle.net/10668/19272Test https://www.mdpi.com/1422-0067/17/10/1735/pdf?version=1476701833Test |
| حقوق: | Attribution 4.0 International ; http://creativecommons.org/licenses/by/4.0Test/ ; open access |
| رقم الانضمام: | edsbas.13ACB23D |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14220067 |
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| DOI: | 10.3390/ijms17101735 |