Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease
| Autor: | Harrison N. Jones, Anita K. Simonds, Emilia Barrot Cortés, Katalin Várdi, Matthias Boentert, Uwe Mellies, Hélène Prigent, Marco Confalonieri, Stephan Wenninger |
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| Přispěvatelé: | Boentert, Matthia, Prigent, Hélène, Várdi, Katalin, Jones, Harrison N., Mellies, Uwe, Simonds, Anita K., Wenninger, Stephan, Barrot Cortés, Emilia, Confalonieri, Marco |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Chemistry
Multidisciplinary medicine.medical_treatment Neuromuscular disorder Medizin Review neuromuscular disorders lcsh:Chemistry Mechanical ventilation 0302 clinical medicine Respiratory muscle weakne Surveys and Questionnaires OBSTRUCTIVE SLEEP-APNEA Glycogen storage disease type II FAILURE PREDICTORS lcsh:QH301-705.5 Spectroscopy Respiratory Function Test Muscle Weakness Glycogen Storage Disease Type II Cough assistance Pompe disease General Medicine Enzyme replacement therapy Respiratory Muscles Computer Science Applications Respiratory Function Tests LUNG-FUNCTION Chemistry Physical Sciences medicine.symptom Respiratory Insufficiency Life Sciences & Biomedicine Human Muscle Weakne Adult Biochemistry & Molecular Biology medicine.medical_specialty respiratory muscle weakness Proximal muscle weakness POLYSOMNOGRAPHIC FINDINGS 0699 Other Biological Sciences mechanical ventilation Catalysis DUCHENNE MUSCULAR-DYSTROPHY Inorganic Chemistry 03 medical and health sciences Intensive care 0399 Other Chemical Sciences medicine Respiratory muscle Humans cough assistance Physical and Theoretical Chemistry Myopathy Intensive care medicine Molecular Biology NEUROMUSCULAR-JUNCTION AIRWAY CLEARANCE 0604 Genetics Science & Technology Chemical Physics business.industry Organic Chemistry PULMONARY-FUNCTION Muscle weakness Infant ADULTS medicine.disease Neuromuscular disorders Respiratory muscle weakness lcsh:Biology (General) lcsh:QD1-999 030228 respiratory system Physical therapy business 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, Vol 17, Iss 10, p 1735 (2016) |
| Popis: | 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. OA gold |
| Databáze: | OpenAIRE |
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