Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining

Molecular Genetics and Metabolism

Volumn 117, Issue 2, 2016, Pages 120-128

  Jones, Harrison N ^a   Crisp, Kelly D ^a   Robey, Randall R ^b   Case, Laura E ^c   Kravitz, Richard M ^a   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF VIRGINIA   (United States)

^c DUKE UNIVERSITY   (United States)

Author keywords

Breathing exercises; Exercise; Glycogen storage disease type II; Rehabilitation; Skeletal muscle

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; EFFECT SIZE; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LUNG FUNCTION TEST; LUNG PRESSURE; MALE; MAXIMUM EXPIRATORY PRESSURE; MAXIMUM INSPIRATORY PRESSURE; MIDDLE AGED; MOTOR PERFORMANCE; MUSCLE STRENGTH; MUSCLE TRAINING; MUSCLE WEAKNESS; PEAK COUGH FLOW; PRIORITY JOURNAL; RESPIRATORY EQUIPMENT; RESPIRATORY MUSCLE TRAINING; TREATMENT DURATION; TREATMENT OUTCOME; BREATHING; BREATHING EXERCISE; BREATHING MUSCLE; GLYCOGEN STORAGE DISEASE TYPE II; ONSET AGE; PATHOPHYSIOLOGY; WALKING;

ADULT; AGE OF ONSET; AGED; BREATHING EXERCISES; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MIDDLE AGED; MUSCLE STRENGTH; RESPIRATION; RESPIRATORY MUSCLES; TREATMENT OUTCOME; WALKING;

EID: 84957838702     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.09.003     Document Type: Article

References (43)

1. Kishnani P.S., Steiner R.D., Bali D., Berger K., Byrne B.J., Case L.E., Crowley J.F., Downs S., Howell R.R., Kravitz R.M., et al. Pompe disease diagnosis and management guideline. Genet. Med. 2006, 8:267-288.
2. Kroos M., Hoogeveen-Westerveld M., van der Ploeg A., Reuser A.J. The genotype-phenotype correlation in Pompe disease. Am. J. Med. Genet. C: Semin. Med. Genet. 2012, 160:59-68.
3. Dubrovsky A., Corderi J., Lin M., Kishnani P.S., Jones H.N. Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation. Muscle Nerve 2011, 44:897-901.
4. Jones H.N., Crisp K.D., Asrani P., Sloane R., Kishnani P.S. Quantitative assessment of lingual strength in late-onset Pompe disease. Muscle Nerve 2015, 51:731-735.
5. Horvath J.J., Austin S.L., Case L.E., Greene K.B., Jones H.N., Soher B.J., Kishnani P.S., Bashir M.R. Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease. Muscle Nerve 2015, 51:722-730.
6. Yanovitch T., Banugaria S., Proia A., Kishnani P. Clinical and histologic ocular findings in Pompe disease. J. Pediatr. Opthalmol. Strabismus 2010, 47:34-40.
7. Yanovitch T., Casey R., Banugaria S., Kishnani P. Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease. J. Neuroopthalmol. 2010, 30:165-166.
8. Bernstein D.L., Bialer M.G., Mehta L., Desnick R.J. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol. Genet. Metab. 2010, 101:130-133.
9. Muller-Felber W., Horvath R., Gempel K., Podskarbi T., Shin Y., Pongratz D., Walter M.C., Baethmann M., Schlotter-Weigel B., Lochmuller H., Schoser B. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul. Disord. 2007, 17:698-706.
10. Prigent H., Orlikowski D., Laforet P., Letilly N., Falaize L., Pellegrini N., Annane D., Raphael J.C., Lofaso F. Supine volume drop and diaphragmatic function in adults with Pompe disease. Eur. Respir. J. 2012, 39:1545-1546.
11. Boentert M., Karabul N., Wenninger S., Stubbe-Dräger B., Mengel E., Schoser B., Young P. Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease. Eur. J. Neurol. 2015, 22:369-376.
12. Jung D.E., Kim K., Lee S.K. Comparison of muscle activities using a pressure biofeedback unit during abdominal muscle training performed by normal adults in the standing and supine positions. J. Phys. Ther. Sci. 2014, 26:191-193.
13. Lee A.Y., Kim E.H., Cho Y.W., Kwon S.O., Son S.M., Ahn S.H. Effects of abdominal hollowing during stair climbing on the activations of local trunk stabilizing muscles: a cross-sectional study. Ann. Rehabil. Med. 2013, 37:804-813.
14. Case L.E., Kishnani P.S. Physical therapy management of Pompe disease. Genet. Med. 2006, 8:318-327.
15. van der Ploeg A.T., Clemens P.R., Corzo D., Escolar D.M., Florence J., Groeneveld G.J., Herson S., Kishnani P.S., Laforet P., Lake S.L., et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N. Engl. J. Med. 2010, 362:1396-1406.
16. Toscano A., Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J. Neurol. 2013, 260:951-959.
17. Regnery C., Kornblum C., Hanisch F., Vielhaber S., Strigl-Pill N., Grunert B., Muller-Felber W., Glocker F.X., Spranger M., Deschauer M., et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J. Inherit. Metab. Dis. 2012, 35:837-845.
18. Battaglia E., Fulgenzi A., Ferrero M.E. Rationale of the combined use of inspiratory and expiratory devices in improving maximal inspiratory pressure and maximal expiratory pressure of patients with chronic obstructive pulmonary disease. Arch. Phys. Med. Rehabil. 2009, 90:913-918.
19. Forbes S., Game A., Syrotuik D., Jones R., Bell G.J. The effect of inspiratory and expiratory respiratory muscle training in rowers. Res. Sports Med. 2011, 19:217-230.
20. Jones H.N., Moss T., Edwards L., Kishnani P.S. Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease. Mol. Genet. Metab. 2011, 104:417-420.
21. Lotters F., van Tol B., Kwakkel G., Gosselink R. Effects of controlled inspiratory muscle training in patients with COPD: a meta-analysis. Eur. Respir. J. 2002, 20:570-576.
22. Weiner P., Gross D., Meiner Z., Ganem R., Weiner M., Zamir D., Rabner M. Respiratory muscle training in patients with moderate to severe myasthenia gravis. Can. J. Neurol. Sci. 1998, 25:236-241.
23. Jones H.N., Crisp K.D., Moss T., Strollo K., Robey R., Sank J., Canfield M., Case L.E., Mahler L., Kravitz R.M., Kishnani P.S. Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness. J. Pediatr. Rehabil. Med. 2014, 7:255-265.
24. Cupler E.J., Berger K.I., Leshner R.T., Wolfe G.I., Han J.J., Barohn R.J., Kissel J.T. Disease ACCoL-oP: consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012, 45:319-333.
25. Nilsson M.I., Samjoo I.A., Hettinga B.P., Koeberl D.D., Zhang H., Hawke T.J., Nissar A.A., Ali T., Brandt L., Ansari M.U., et al. Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease. Mol. Genet. Metab. 2012, 107:469-479.
26. Favejee M.M., van den Berg L.E., Kruijshaar M.E., Wens S.C., Praet S.F., Pijnappel W.W., van Doorn P.A., Bussmann J.B., van der Ploeg A.T. Exercise training in adults with pompe disease: the effects on pain, fatigue, and functioning. Arch. Phys. Med. Rehabil. 2014.
27. Terzis G., Dimopoulos F., Papadimas G., Papadopoulos C., Spengos K., Fatouros I., Kavouras S., Manta P. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol. Genet. Metab. 2011, 104:279-283.
28. van den Berg L.E., Favejee M.M., Wens S.C., Kruijshaar M.E., Praet S.F., Reuser A.J., Bussmann J.B., van Doorn P.A., van der Ploeg A. Safety and efficacy of exercise training in adults with Pompe disease: evaluation of endurance, muscle strength, and core stability before and after a 12 week training program. Orphanet J. Rare Dis. 2015, 10.
29. Backman C.L., Harris S.R., Chisholm J.A., Monette A.D. Single-subject research in rehabilitation: a review of studies using AB, withdrawal, multiple baseline, and alternating treatments designs. Arch. Phys. Med. Rehabil. 1997, 78:1145-1153.
30. Janosky J.E., Leininger S.L., Hoerger M.P., Libkuman T.M. Single Subject Designs in Biomedicine New York: Springer 2009.
31. Robey R.R., Wambaugh J. Single-subject versus randomized group design. ASHA 1999, 41:14-15.
32. Busk P., Serlin R.C. Meta-analysis for single-case research. Single-case Research Design and Analysis: New Directions for Psychology and Education 1992, Lawrence Erlbaum Associates, Hillsdale, NJ. T. Kratochwill, J.R. Levin (Eds.).
33. McDonald C.M., Henricson E.K., Abresch R.T., Florence J., Eagle M., Gappmaier E., Glanzman A.M., Spiegel R., Barth J., Elfring G., et al. The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle Nerve 2013, 48:357-368.
34. American Thoracic Society/European Respiratory S ATS/ERS statement on respiratory muscle testing. Am. J. Respir. Crit. Care Med. 2002, 166:518-624.
35. Evans J.A., Whitelaw W.A. The assessment of maximal respiratory mouth pressures in adults. Respir. Care 2009, 54:1348-1359.
36. ATS statement: guidelines for the six-minute walk test. Am. J. Respir. Crit. Care Med. 2002, 166:111-117.
37. Koessler W., Wanke T., Winkler G., Nader A., Toifl K., Kurz H., Zwick H. 2 years' experience with inspiratory muscle training in patients with neuromuscular disorders. Chest 2001, 120:765-769.
38. Wanke T., Toifl K., Merkle M., Formanek D., Lahrmann H., Zwick H. Inspiratory muscle training in patients with Duchenne muscular dystrophy. Chest 1994, 105:475-482.
39. Gozal D., Thiriet P. Respiratory muscle training in neuromuscular disease: long-term effects on strength and load perception. Med. Sci. Sports Exerc. 1999, 31:1522-1527.
40. McCool F.D., Tzelepis G.E. Inspiratory muscle training in the patient with neuromuscular disease. Phys. Ther. 1995, 75:1006-1014.
41. Alejaldre A., Diaz-Manera J., Ravaglia S., Tibaldi E.C., D'Amore F., Moris G., Muelas N., Vilchez J.J., Garcia-Medina A., Uson M., et al. Trunk muscle involvement in late-onset Pompe disease: study of thirty patients. Neuromuscul. Disord. 2012, 22(Suppl 2):S148-S154.
42. Black L., Hyatt R. Maximal respiratory pressures: normal values and relationship to age and sex. Am. Rev. Respir. Dis. 1969, 99:696-702.
43. Kaptchuk T.J., Stason W.B., Davis R.B., Legedza A.R., Schnyer R.N., Kerr C.E., Stone D.A., Nam B.H., Kirsch I., Goldman R.H. Sham device v inert pill: randomised controlled trial of two placebo treatments. BMJ 2006, 332:391-397.