Physiotherapy Management in Adults with Pompe Disease

This thesis aimed to investigate whether physiotherapeutic care of patients with Pompe disease can be a valuable addition to the existing ERT and how this care can be organised. The studies included in this thesis explore the referral patterns to contemporary physiotherapeutic care and their content (both regular physiotherapy and pelvic floor physiotherapy), the use of exercise training to improve patients’ functioning (beyond any improvements obtained from ERT), as well as risk factors influencing patients’ walking performance

Safety and efficacy of exercise training in adults with Pompe disease: Evalution of endurance, muscle strength and core stability before and after a 12 week training program

Background: Pompe disease is a proximal myopathy. We investigated whether exercise training is a safe and useful adjuvant therapy for adult Pompe patients, receiving enzyme replacement therapy. Methods: Training comprised 36 sessions of standardized aerobic, resistance and core stability exercises over 12 weeks. Before and after, the primary outcome measures safety, endurance (aerobic exercise capacity and distance walked on the 6 min walk test) and muscle strength, and secondary outcome measures core stability, muscle function and body composition, were evaluated. Results: Of 25 patients enrolled, 23 successfully completed the training. Improvements in endurance were shown by increases in maximum workload capacity (110 W before to 122 W after training, [95 % CI of the difference 6 · 0 to 19 · 7]), maximal oxygen uptake capacity (69 · 4 % and 75 · 9 % of normal, [2 · 5 to 10 · 4]), and maximum walking distance (6 min walk test: 492 meters and 508, [-4 · 4 to 27 · 7]). There were increases in muscle strength of the hip flexors (156 · 4 N to 180 · 7 N [1 · 6 to 13 · 6) and shoulder abductors (143 · 1 N to 150 · 7 N [13 · 2 to 35 · 2]). As an important finding in secondary outcome measures the number of patients who were able to perform the core stability exercises rose, as did the core stability balancing time (p < 0.05, for all four exercises). Functional tests showed small reductions in the time needed to climb four steps (2 · 4 sec to 2 · 1, [- 0 · 54 to -0 · 04 ]) and rise to standing position (5 · 8 sec to 4 · 8, [-2 · 0 to 0 · 0]), while time to run, the quick motor function test results and body composition remained unchanged. Conclusions: Our study shows that a combination of aerobic, strength and core stability exercises is feasible, safe and beneficial to adults with Pompe disease

Frozen shoulder: The effectiveness of conservative and surgical interventions-systematic review

Background A variety of therapeutic interventions is available for restoring motion and diminishing pain in patients with frozen shoulder. An overview article concerning the evidence for the effectiveness of these interventions is lacking. Objective To provide an evidence-based overview regarding the effectiveness of conservative and surgical interventions to treat the frozen shoulder. Methods The Cochrane Library, PubMed, Embase, Cinahl and Pedro were searched for relevant systematic reviews and randomised clinical trials (RCTs). Two reviewers independently selected relevant studies, assessed the methodological quality and extracted data. A best-evidence synthesis was used to summarise the results. Results Five Cochrane reviews and 18 RCTs were included studying the effectiveness of oral medication, injection therapy, physiotherapy, acupuncture, arthrographic distension and suprascapular nerve block (SSNB). Conclusions We found strong evidence for the effectiveness of steroid injections and laser therapy in short-term and moderate evidence for steroid injections in mid-term follow-up. Moderate evidence was found in favour of mobilisation techniques in the short and long term, for the effectiveness of arthrographic distension alone and as an addition to active physiotherapy in the short term, for the effectiveness of oral steroids compared with no treatment or placebo in the short term, and for the effectiveness of SSNB compared with acupuncture, placebo or steroid injections. For other commonly used interventions no or only limited evidence of effectiveness was found. Most of the included studies reported short-term results, whereas symptoms of frozen shoulder may last up to 4 years. High quality RCTs studying long-term results are clearly needed in this fi eld