Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature
Pompe disease (PD) is a rare neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase. There are three forms of PD depending on the age at onset and clinical severity. PD causes involvement of different organ systems, such as the heart, musculoskeletal system, and respirato...
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| Format: | Article |
| Language: | English |
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MDPI AG
2019-06-01
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| Series: | Neurology International |
| Subjects: | |
| Online Access: | https://www.pagepress.org/journals/index.php/ni/article/view/7983 |
| _version_ | 1797936662899064832 |
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| author | Bruno Corrado Gianluca Ciardi Clemente Servodio Iammarrone |
| author_facet | Bruno Corrado Gianluca Ciardi Clemente Servodio Iammarrone |
| author_sort | Bruno Corrado |
| collection | DOAJ |
| description | Pompe disease (PD) is a rare neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase. There are three forms of PD depending on the age at onset and clinical severity. PD causes involvement of different organ systems, such as the heart, musculoskeletal system, and respiratory system. As of today, enzymere placement therapy represents the main therapeutic tool for PD. Rehabilitation is an integral part of a multidisciplinary approach to this pathology. The goal of the present review is to find scientific evidence for the rehabilitative approach to PD, with respect to both the infantile- and adult-onset forms. A systematic literature review was made using the following databases: Pubmed, Pedro, Cochrane Library, EDS Base Index, Trip, and Cinhal. Randomized controlled trials or cohort studies with a sample population of at least six subjects were retrieved. The PICO method was used to formulate the clinical query. The search resulted in 1665 articles. Of these, four cohort studies were subjected to the final phase of the review. Three studies regarded inspiratory muscle training with a threshold, while the fourth study analyzed the effectiveness of therapeutic, aerobic, and reinforcement exercises. Inspiratory muscle training with a threshold increases the pressures generated during inhalation. Aerobic exercise is capable of increasing patients’ muscular endurance and performance. To date, however, rehabilitative treatment for patients with PD has no validation in evidence-based medicine. Further studies, possibly with a larger sample size and higher quality are necessary to confirm the effectiveness of rehabilitation in patients with PD. |
| first_indexed | 2024-04-10T18:33:55Z |
| format | Article |
| id | doaj.art-25634223eadb4b15a63776c1b26b8f5e |
| institution | Directory Open Access Journal |
| issn | 2035-8385 2035-8377 |
| language | English |
| last_indexed | 2024-04-10T18:33:55Z |
| publishDate | 2019-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Neurology International |
| spelling | doaj.art-25634223eadb4b15a63776c1b26b8f5e2023-02-02T02:19:28ZengMDPI AGNeurology International2035-83852035-83772019-06-0111210.4081/ni.2019.7983Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literatureBruno Corrado0Gianluca Ciardi1Clemente Servodio Iammarrone2Department of Public Health, ‘Federico II’ University of NaplesDepartment of Public Health, ‘Federico II’ University of NaplesDepartment of Public Health, ‘Federico II’ University of NaplesPompe disease (PD) is a rare neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase. There are three forms of PD depending on the age at onset and clinical severity. PD causes involvement of different organ systems, such as the heart, musculoskeletal system, and respiratory system. As of today, enzymere placement therapy represents the main therapeutic tool for PD. Rehabilitation is an integral part of a multidisciplinary approach to this pathology. The goal of the present review is to find scientific evidence for the rehabilitative approach to PD, with respect to both the infantile- and adult-onset forms. A systematic literature review was made using the following databases: Pubmed, Pedro, Cochrane Library, EDS Base Index, Trip, and Cinhal. Randomized controlled trials or cohort studies with a sample population of at least six subjects were retrieved. The PICO method was used to formulate the clinical query. The search resulted in 1665 articles. Of these, four cohort studies were subjected to the final phase of the review. Three studies regarded inspiratory muscle training with a threshold, while the fourth study analyzed the effectiveness of therapeutic, aerobic, and reinforcement exercises. Inspiratory muscle training with a threshold increases the pressures generated during inhalation. Aerobic exercise is capable of increasing patients’ muscular endurance and performance. To date, however, rehabilitative treatment for patients with PD has no validation in evidence-based medicine. Further studies, possibly with a larger sample size and higher quality are necessary to confirm the effectiveness of rehabilitation in patients with PD.https://www.pagepress.org/journals/index.php/ni/article/view/7983Pompe DiseaseStorage Disease Type IIMyopathiesRehabilitationPhysical Therapy Modalities |
| spellingShingle | Bruno Corrado Gianluca Ciardi Clemente Servodio Iammarrone Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature Neurology International Pompe Disease Storage Disease Type II Myopathies Rehabilitation Physical Therapy Modalities |
| title | Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature |
| title_full | Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature |
| title_fullStr | Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature |
| title_full_unstemmed | Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature |
| title_short | Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature |
| title_sort | rehabilitation management of pompe disease from childhood trough adulthood a systematic review of the literature |
| topic | Pompe Disease Storage Disease Type II Myopathies Rehabilitation Physical Therapy Modalities |
| url | https://www.pagepress.org/journals/index.php/ni/article/view/7983 |
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