Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature

Abstract

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.

Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease

“…However, influences of vibration on gait and posture have been shown to reduce the risk of falls by a more multimodal approach (e.g., ankle joint motion, sensation of foot plantar surface and fear) in older adults [41]. Finally, Corrado et al [42] revealed that there is no research supporting the effectiveness of rehabilitation protocols among LOPD patients. Corrado et al [42] performed a systematic review investigating current rehabilitation protocols for LOPD patients and concluded that studies with larger sample sizes and higher quality are necessary to reduce the lack of evidence surrounding rehabilitative treatments.…”

“…Finally, Corrado et al [42] revealed that there is no research supporting the effectiveness of rehabilitation protocols among LOPD patients. Corrado et al [42] performed a systematic review investigating current rehabilitation protocols for LOPD patients and concluded that studies with larger sample sizes and higher quality are necessary to reduce the lack of evidence surrounding rehabilitative treatments. The extremely large gait performance differences within LOPD patients (e.g., range of walking speed: 0.25-1.58 m/s; Table 2) and postural stability (e.g., range of ST: 11.7-57.5; Table 4) in our study may have also been a result of the small size of our cohort.…”

Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review

“…Physical therapy is a branch of rehabilitation and its aim is to preserve, enhance, or restore movement and physical function impaired or threatened by disease, injury, or disability, using therapeutic exercise, physical modalities, assistive devices, and patient education and training. Physiotherapy is an essential tool in the management of several neuromuscular diseases and genetic disorders, with quite strong evidence of effectiveness [ 20 , 21 , 22 , 23 , 24 ]; its usefulness is even more evident if those pathologies affect children [ 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 ].…”

Supervised Physical Therapy and Polymyositis/Dermatomyositis—A Systematic Review of the Literature

“…Physical therapy has progressively acquired a central role in the management of neuromuscular disorders [ 28 , 29 , 30 , 31 ]. However, in the recent past, scientific knowledge about exercising in patients with muscle diseases was limited, and for this reason, physicians had often trouble prescribing it.…”