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 |
|---|---|
| المؤلفون: | Harrison N. Jones, Anita K. Simonds, Emilia Barrot Cortés, Katalin Várdi, Matthias Boentert, Uwe Mellies, Hélène Prigent, Marco Confalonieri, Stephan Wenninger |
| المساهمون: | Boentert, Matthia, Prigent, Hélène, Várdi, Katalin, Jones, Harrison N., Mellies, Uwe, Simonds, Anita K., Wenninger, Stephan, Barrot Cortés, Emilia, Confalonieri, Marco |
| المصدر: | International Journal of Molecular Sciences International Journal of Molecular Sciences, Vol 17, Iss 10, p 1735 (2016) |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | 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 |
| 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. OA gold |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce49b793816b0388c805c88422317a84Test https://www.ncbi.nlm.nih.gov/pubmed/27763517Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....ce49b793816b0388c805c88422317a84 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |