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07.12.2019 | Original Article

Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach

verfasst von: Giovanni Iolascon, Michele Vitacca, Elena Carraro, Carmelo Chisari, Pietro Fiore, Sonia Messina, Tiziana Mongini, Antimo Moretti, Valeria A. Sansone, Antonio Toscano, Gabriele Siciliano, on behalf of AIM (Italian Association of Myology), AIPO (Italian Association of Hospital Pulmonologists), SIRN (Italian Society of Neurorehabilitation), and SIMFER (Italian Society of Physical Medicine and Rehabilitation)

Erschienen in: Neurological Sciences | Ausgabe 4/2020

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Abstract

Aerobic exercise, training to sustain motor ability, and respiratory rehabilitation may improve general functioning and quality of life (QoL) in neuromuscular disorders. Patients with late-onset Pompe disease (LOPD) typically show progressive muscle weakness, respiratory dysfunction and minor cardiac involvement. Characteristics and modalities of motor and respiratory rehabilitation in LOPD are not well defined and specific guidelines are lacking. Therefore, we evaluated the role of physical activity, therapeutic exercise, and pulmonary rehabilitation programs in order to promote an appropriate management of motor and respiratory dysfunctions and improve QoL in patients with LOPD. We propose two operational protocols: one for an adapted physical activity (APA) plan and the other for an individual rehabilitation plan, particularly focused on therapeutic exercise (TE) and respiratory rehabilitation.

Hirschhorn R, Reuser AJ (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Vogelstein B, Childs B et al (eds) Metabolic and molecular bases of inherited diseases, 8th edn. McGraw-Hill Medical, New York, pp 3389–3420

Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O’Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS (2006) Pompe disease diagnosis and management guideline. Genet Med 8(5):267–288. https://doi.org/10.1097/01.gim.0000218152.87434.f3 CrossRefPubMedPubMedCentral

Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E (2013) Phenotypical variation within 22 families with Pompe disease. Orphanet J Rare Dis 8:182. https://doi.org/10.1186/1750-1172-8-182 CrossRefPubMedPubMedCentral

Lim JA, Li L, Raben N (2014) Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci 6:177. https://doi.org/10.3389/fnagi.2014.00177 CrossRefPubMedPubMedCentral

De Filippi P, Saeidi K, Ravaglia S, Dardis A, Angelini C, Mongini T, Morandi L, Moggio M, Di Muzio A, Filosto M, Bembi B, Giannini F, Marrosu G, Rigoldi M, Tonin P, Servidei S, Siciliano G, Carlucci A, Scotti C, Comelli M, Toscano A, Danesino C (2014) Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet J Rare Dis 9:102. https://doi.org/10.1186/s13023-014-0102-z CrossRefPubMedPubMedCentral

Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Di Iorio G, Siciliano G, Donati MA, Carubbi F, Ermani M, Mongini T, Toscano A, Italian GG (2012) Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol 259(5):952–958. https://doi.org/10.1007/s00415-011-6293-5 CrossRefPubMed

Reuser AJ, Van Den Hout H, Bijvoet AG, Kroos MA, Verbeet MP, Van Der Ploeg AT (2002) Enzyme therapy for Pompe disease: from science to industrial enterprise. Eur J Pediatr 161(Suppl 1):S106–S111. https://doi.org/10.1007/s00431-002-1015-8 CrossRefPubMed

Vita G, Vita GL, Musumeci O, Rodolico C, Messina S (2019) Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle. Neurol Sci 40(4):671–681. https://doi.org/10.1007/s10072-019-03764-z CrossRefPubMed

van der Ploeg AT, Reuser AJ (2008) Pompe’s disease. Lancet 372(9646):1342–1353. https://doi.org/10.1016/S0140-6736(08)61555-X CrossRefPubMed

10.

Abresch RT, Han JJ, Carter GT (2009) Rehabilitation management of neuromuscular disease: the role of exercise training. J Clin Neuromuscul Dis 11(1):7–21. https://doi.org/10.1097/CND.0b013e3181a8d36b CrossRefPubMed

11.

Iolascon G, Vitacca M, Carraro E, Chisari C, Fiore P, Messina S, Mongini TEG, Sansone VA, Toscano A, Siciliano G (2018) The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence. Acta Myol 37(4):241–251PubMedPubMedCentral

12.

Alejaldre A, Diaz-Manera J, Ravaglia S, Tibaldi EC, D’Amore F, Moris G, Muelas N, Vilchez JJ, Garcia-Medina A, Uson M, Martinez Garcia FA, Illa I, Pichiecchio A (2012) Trunk muscle involvement in late-onset Pompe disease: study of thirty patients. Neuromuscul Disord 22(Suppl 2):S148–S154. https://doi.org/10.1016/j.nmd.2012.05.011 CrossRefPubMed

13.

Grassi B, Rossiter HB, Zoladz JA (2015) Skeletal muscle fatigue and decreased efficiency: two sides of the same coin? Exerc Sport Sci Rev 43(2):75–83. https://doi.org/10.1249/JES.0000000000000043 CrossRefPubMed

14.

Muller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmuller H, Schoser B (2007) Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 17(9–10):698–706. https://doi.org/10.1016/j.nmd.2007.06.002 CrossRefPubMed

15.

Gaeta M, Barca E, Ruggeri P, Minutoli F, Rodolico C, Mazziotti S, Milardi D, Musumeci O, Toscano A (2013) Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. Mol Genet Metab 110(3):290–296. https://doi.org/10.1016/j.ymgme.2013.06.023 CrossRefPubMed

16.

Sechi A, Salvadego D, Da Ponte A, Bertin N, Dardis A, Cattarossi S, Devigili G, Reccardini F, Bembi B, Grassi B (2017) Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease. Neuromuscul Disord 27(6):542–549. https://doi.org/10.1016/j.nmd.2017.03.002 CrossRefPubMed

17.

van den Berg LE, Favejee MM, Wens SC, Kruijshaar ME, Praet SF, Reuser AJ, Bussmann JB, van Doorn PA, van der Ploeg AT (2015) 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 10:87. https://doi.org/10.1186/s13023-015-0303-0 CrossRefPubMedPubMedCentral

18.

Borg G (1970) Perceived exertion as an indicator of somatic stress. Scand J Rehabil Med 2(2):92–98PubMed

19.

Crescimanno G, Modica R, Lo Mauro R, Musumeci O, Toscano A, Marrone O (2015) Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease. Neuromuscul Disord 25(7):542–547. https://doi.org/10.1016/j.nmd.2015.03.010 CrossRefPubMed

20.

Grassi B, Marzorati M, Lanfranconi F, Ferri A, Longaretti M, Stucchi A, Vago P, Marconi C, Morandi L (2007) Impaired oxygen extraction in metabolic myopathies: detection and quantification by near-infrared spectroscopy. Muscle Nerve 35(4):510–520. https://doi.org/10.1002/mus.20708 CrossRefPubMed

21.

Grassi B, Porcelli S, Marzorati M, Lanfranconi F, Vago P, Marconi C, Morandi L (2009) Metabolic myopathies: functional evaluation by analysis of oxygen uptake kinetics. Med Sci Sports Exerc 41(12):2120–2127. https://doi.org/10.1249/MSS.0b013e3181aae96b CrossRefPubMed

22.

Preisler N, Laforet P, Madsen KL, Hansen RS, Lukacs Z, Orngreen MC, Lacour A, Vissing J (2012) Fat and carbohydrate metabolism during exercise in late-onset Pompe disease. Mol Genet Metab 107(3):462–468. https://doi.org/10.1016/j.ymgme.2012.08.019 CrossRefPubMed

23.

Wasserman K, Hansen JE, Sue DY, Casaburi R, Whipp BJ (1999) Principles of exercise testing. Lippincott, Williams and Wilkins

24.

Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E, Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G, Mongini T, Toscano A, Italian Group on G (2012) New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. Muscle Nerve 45(6):831–834. https://doi.org/10.1002/mus.23340 CrossRefPubMed

25.

Schoser B, Laforet P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT (2015) 208th ENMC International Workshop: formation of a European network to develop a European data sharing model and treatment guidelines for Pompe disease. Naarden, The Netherlands, 26-28 September 2014. Neuromuscul Disord 25(8):674–678. https://doi.org/10.1016/j.nmd.2015.04.006 CrossRefPubMed

26.

Fisk JD, Ritvo PG, Ross L, Haase DA, Marrie TJ, Schlech WF (1994) Measuring the functional impact of fatigue: initial validation of the fatigue impact scale. Clin Infect Dis 18(Suppl 1):S79–S83. https://doi.org/10.1093/clinids/18.supplement_1.s79 CrossRefPubMed

27.

Larson RD (2013) Psychometric properties of the modified fatigue impact scale. Int J MS Care 15(1):15–20. https://doi.org/10.7224/1537-2073.2012-019 CrossRefPubMedPubMedCentral

28.

Keith RA, Granger CV, Hamilton BB, Sherwin FS (1987) The functional independence measure: a new tool for rehabilitation. Adv Clin Rehabil 1:6–18PubMed

29.

Mills R, Young C, Nicholas R, Pallant J, Tennant A (2009) Rasch analysis of the fatigue severity scale in multiple sclerosis. Mult Scler 15(1):81–87. https://doi.org/10.1177/1352458508096215 CrossRefPubMed

30.

Ottonello M, Pellicciari L, Giordano A, Foti C (2016) Rasch analysis of the fatigue severity scale in Italian subjects with multiple sclerosis. J Rehabil Med 48(7):597–603. https://doi.org/10.2340/16501977-2116 CrossRefPubMed

31.

Siciliano M, Chiorri C, De Micco R, Russo A, Tedeschi G, Trojano L, Tessitore A (2019) Fatigue in Parkinson’s disease: Italian validation of the Parkinson fatigue scale and the fatigue severity scale using a Rasch analysis approach. Parkinsonism Relat Disord 65:105–110. https://doi.org/10.1016/j.parkreldis.2019.05.028 CrossRefPubMed

32.

Rooney S, McFadyen DA, Wood DL, Moffat DF, Paul PL (2019) Minimally important difference of the fatigue severity scale and modified fatigue impact scale in people with multiple sclerosis. Mult Scler Relat Disord 35:158–163. https://doi.org/10.1016/j.msard.2019.07.028 CrossRefPubMed

33.

Schiehser DM, Ayers CR, Liu L, Lessig S, Song DS, Filoteo JV (2013) Validation of the modified fatigue impact scale in Parkinson’s disease. Parkinsonism Relat Disord 19(3):335–338. https://doi.org/10.1016/j.parkreldis.2012.11.013 CrossRefPubMed

34.

Kluger BM, Garimella S, Garvan C (2017) Minimal clinically important difference of the modified fatigue impact scale in Parkinson’s disease. Parkinsonism Relat Disord 43:101–104. https://doi.org/10.1016/j.parkreldis.2017.07.016 CrossRefPubMed

35.

World Health Organization Physical activity. http://www.who.int/ncds/prevention/physical-activity/introduction/en/. Accessed July 23 2018

36.

Patel H, Alkhawam H, Madanieh R, Shah N, Kosmas CE, Vittorio TJ (2017) Aerobic vs anaerobic exercise training effects on the cardiovascular system. World J Cardiol 9(2):134–138. https://doi.org/10.4330/wjc.v9.i2.134 CrossRefPubMedPubMedCentral

37.

Aagaard P, Andersen JL, Dyhre-Poulsen P, Leffers AM, Wagner A, Magnusson SP, Halkjaer-Kristensen J, Simonsen EB (2001) A mechanism for increased contractile strength of human pennate muscle in response to strength training: changes in muscle architecture. J Physiol 534(Pt. 2):613–623. https://doi.org/10.1111/j.1469-7793.2001.t01-1-00613.x CrossRefPubMedPubMedCentral

38.

Kobayashi YM, Rader EP, Crawford RW, Iyengar NK, Thedens DR, Faulkner JA, Parikh SV, Weiss RM, Chamberlain JS, Moore SA, Campbell KP (2008) Sarcolemma-localized nNOS is required to maintain activity after mild exercise. Nature 456(7221):511–515. https://doi.org/10.1038/nature07414 CrossRefPubMedPubMedCentral

39.

Abresch RT, Carter GT, Han JJ, McDonald CM (2012) Exercise in neuromuscular diseases. Phys Med Rehabil Clin N Am 23(3):653–673. https://doi.org/10.1016/j.pmr.2012.06.001 CrossRefPubMed

40.

Panosyan FB, Fitzpatrick MF, Bolton CF (2014) Late onset Pompe disease mimicking rigid spine syndrome. Can J Neurol Sci 41(2):286–289CrossRef

41.

Magrinelli F, Tosi M, Tonin P (2017) Teaching video neuroimages: bent spine syndrome as an early presentation of late-onset Pompe disease. Neurology 89(3):e21–e22. https://doi.org/10.1212/WNL.0000000000004119 CrossRefPubMed

42.

Harvey LA, Katalinic OM, Herbert RD, Moseley AM, Lannin NA, Schurr K (2017) Stretch for the treatment and prevention of contractures. Cochrane Database Syst Rev 1:CD007455. https://doi.org/10.1002/14651858.CD007455.pub3 CrossRefPubMed

43.

Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, Boney A, Morgan C, Corzo D, Bouchard S, Weber TJ, Chen YT, Kishnani PS (2007) Fractures in children with Pompe disease: a potential long-term complication. Pediatr Radiol 37(5):437–445. https://doi.org/10.1007/s00247-007-0428-y CrossRefPubMed

44.

Hyde SA, FlLytrup I, Glent S, Kroksmark AK, Salling B, Steffensen BF, Werlauff U, Erlandsen M (2000) A randomized comparative study of two methods for controlling tendon Achilles contracture in Duchenne muscular dystrophy. Neuromuscul Disord 10(4–5):257–263CrossRef

45.

Stuberg WA (2000) Muscular dystrophy and spinal muscular atrophy. In: Campbell SK, Vander Linden DW, Palisano RJ (eds) Physical therapy for children. W. B. Saunders Company, Philadelphia, pp 339–368

46.

Rapin A, Etosse A, Tambosco L, Nicomette J, Percebois-Macadre L, Mouret P, Boyer FC (2013) Aerobic capacities and exercise tolerance in neuromuscular diseases: a descriptive study. Ann Phys Rehabil Med 56(6):420–433. https://doi.org/10.1016/j.rehab.2013.04.004 CrossRefPubMed

47.

van der Ploeg RJ, Oosterhuis HJ, Reuvekamp J (1984) Measuring muscle strength. J Neurol 231(4):200–203CrossRef

48.

Lachmann R, Schoser B (2013) The clinical relevance of outcomes used in late-onset Pompe disease: can we do better? Orphanet J Rare Dis 8:160. https://doi.org/10.1186/1750-1172-8-160 CrossRefPubMedPubMedCentral

49.

Hagemans ML, van Schie SP, Janssens AC, van Doorn PA, Reuser AJ, van der Ploeg AT (2007) Fatigue: an important feature of late-onset Pompe disease. J Neurol 254(7):941–945. https://doi.org/10.1007/s00415-006-0434-2 CrossRefPubMedPubMedCentral

50.

Montagnese F, Thiele S, Wenninger S, Schoser B (2016) Long-term whole-body vibration training in two late-onset Pompe disease patients. Neurol Sci 37(8):1357–1360. https://doi.org/10.1007/s10072-016-2612-z CrossRefPubMed

51.

Boentert M, Prigent H, Vardi K, Jones HN, Mellies U, Simonds AK, Wenninger S, Barrot Cortes E, Confalonieri M (2016) Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease. Int J Mol Sci 17(10). https://doi.org/10.3390/ijms17101735

52.

Vitacca M, Grandi M, Sturani C, Galavotti V, Guffanti E, Colombo D, Fiorenza D, Aiolfi S, Patruno V, Fanfulla F, Nava S, Ceriana P, Vitacca E, Felisari G, Amaducci S, Banfi P, Rossi G (2009) Valutazione e trattamento delle malattie neuromuscolari e malattia del motoneurone in ambito pneumologico: position paper della Sezione Regionale AIPO Lombardia. Rassegna di Patologia dell’Apparato Respiratorio 24(2):64–69

53.

Hill N, Liesching T, Kwok H (2004) Indications for non-invasive ventilation. In: Slutsky ASBL (ed) Update in intensive care medicine: mechanical ventilation. Springer, Berlin, pp 171–188

54.

Shneerson JM, Simonds AK (2002) Noninvasive ventilation for chest wall and neuromuscular disorders. Eur Respir J 20(2):480–487CrossRef

55.

Aslan GK, Huseyinsinoglu BE, Oflazer P, Gurses N, Kiyan E (2016) Inspiratory muscle training in late-onset Pompe disease: the effects on pulmonary function tests, quality of life, and sleep quality. Lung 194(4):555–561. https://doi.org/10.1007/s00408-016-9881-4 CrossRefPubMed

56.

Jevnikar M, Kodric M, Cantarutti F, Cifaldi R, Longo C, Della Porta R, Bembi B, Confalonieri M (2015) Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease. Mol Genet Metab Rep 5:67–71. https://doi.org/10.1016/j.ymgmr.2015.09.007 CrossRefPubMed

57.

Jones HN, Crisp KD, Robey RR, Case LE, Kravitz RM, Kishnani PS (2016) Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): effects of training and detraining. Mol Genet Metab 117(2):120–128. https://doi.org/10.1016/j.ymgme.2015.09.003 CrossRefPubMed

58.

Ambrosino N, Confalonieri M, Crescimanno G, Vianello A, Vitacca M (2013) The role of respiratory management of Pompe disease. Respir Med 107(8):1124–1132. https://doi.org/10.1016/j.rmed.2013.03.004 CrossRefPubMed

Titel: Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach
verfasst von: Giovanni Iolascon
Michele Vitacca
Elena Carraro
Carmelo Chisari
Pietro Fiore
Sonia Messina
Tiziana Mongini
Antimo Moretti
Valeria A. Sansone
Antonio Toscano
Gabriele Siciliano
on behalf of AIM (Italian Association of Myology), AIPO (Italian Association of Hospital Pulmonologists), SIRN (Italian Society of Neurorehabilitation), and SIMFER (Italian Society of Physical Medicine and Rehabilitation)
Publikationsdatum: 07.12.2019
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 4/2020
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-04178-7

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