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

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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.

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Acknowledgments

We would like to thank Catherine Rees and Toni Dando of Springer Healthcare Communications for editing the manuscript before submission. This project was realized with the unconditional support provided by Sanofi Genzyme Italy.

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Authors and Affiliations

  1. Department of Medical and Surgical Specialties and Dentistry, University of Campania “Luigi Vanvitelli”, Via De Crecchio 4, 80138, Naples, Italy

    Giovanni Iolascon & Antimo Moretti

  2. FERS Respiratory Rehabilitation Unit, ICS S. Maugeri IRCCS, Lumezzane, BS, Italy

    Michele Vitacca

  3. NeuroMuscular Omnicentre, Fondazione Serena Onlus, Neurorehabilitation Unit, University of Milan, Milan, Italy

    Elena Carraro & Valeria A. Sansone

  4. Unit of Neurorehabilitation, Department of Medical Specialties, University Hospital of Pisa, Pisa, Italy

    Carmelo Chisari

  5. Department of Basic Sciences, Neuroscience and Sense Organs, University of Bari “Aldo Moro”, Bari, Italy

    Pietro Fiore

  6. Neurology and Neuromuscular Unit, University of Messina, Messina, Italy

    Sonia Messina & Antonio Toscano

  7. Neuromuscular Unit, Department of Neurosciences, University of Turin, Turin, Italy

    Tiziana Mongini

  8. Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

    Gabriele Siciliano

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  1. Giovanni Iolascon
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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)

Contributions

GI provided substantial contribution to the conception and to the design of the paper, drafting the work, revising it critically for intellectual content, and formulating protocols; AM contributed to database research, and to formulation of protocols; SM contributed to database research. All authors read, revised and approved drafts, and approved the final version of the manuscript before submission.

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Correspondence to Giovanni Iolascon.

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Conflict of interest

GI, MV, EC, PF, SM, and AM have no conflicts of interest to declare. CC has served as an expert in a scientific meeting for Sanofi Genzyme.TM has served as an expert in scientific boards for Sanofi Genzyme. VAS has served as scientific expert on advisory boards for Biogen, Avexis, Sarepta, Santhera, and PTC Therapeutics and declares no conflict of interest for this project. AT has received some reimbursement from Sanofi Genzyme for assisting in teaching courses and for being a member of the Global Pompe Registry committee. GS has served as scientific expert and supervisor for a study grant on Pompe disease supported by Sanofi in 2018 and in the current year.

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Endorsed by the AIM (Italian Association of Myology), AIPO (Italian Association of Hospital Pulmonologists), SIRN (Italian Society of Neurorehabilitation), and the SIMFER (Italian Society of Physical Medicine and Rehabilitation)

Highlights for adapted physical activity (APA) and exercise in LOPD patients

• Each patient should perform an APA program and, where indicated, a TE program based on their clinical and functional conditions.

• A personalized TE program must include progressive strength training performed against both static and dynamic resistance forces and including concentric and eccentric contractions.

• In particular conditions, such as RSS or BSS, patients should be included in a contracture prevention program based on flexibility exercises (stretching) and, where necessary, using orthoses.

Highlights for APA in LOPD patients

• In the initial phases of LOPD, when the disease burden is still limited (absence of severe impairments or ADL limitations), an APA program should be suggested to avoid a sedentary lifestyle and to improve mental and physical well-being.

• APA ranges from ADL (which the subject performs independently) to a personalized training program (in a group or individually), supervised by professionals in a suitable sports setting (gym).

• Daily and/or recreational activities or sports should be done 3 to 5 times a week, initially advocating a moderate-intensity activity regimen, and accumulating at least 30 min per day.

Highlights for individual rehabilitation plan (IRP) in LOPD patients

• An IRP is advised in patients with skeletal muscle impairments resulting in significant functional limitation.

• The IRP is formulated by a rehabilitation team, which identifies the desired outcomes and defines how these might be achieved through individually tailored rehabilitation programs, according to the ICF-based approach.

• The TE protocol aims to improve skeletal muscle performance (muscle strength and core stability) and cardiorespiratory fitness, while avoiding excessive workload, pain, and fatigue.

• The TE protocol should be performed between two and five times a week, with sessions that last from 20 to 60 min, depending on the patient’s clinical and functional condition, and their compliance.

• The cornerstones of respiratory rehabilitative intervention are the treatment of nocturnal hypoventilation and the management of secretions.

• Assistance in the inspiratory phase can be achieved by means of hyperinsufflation, air stacking, selective expiratory assistance, and global cough assistance with air stacking and insufflation/exsufflation.

• NIV increases survival, prevents nocturnal hypoventilation, improves nighttime saturation, sleep-related respiratory disorders, gas exchange, and QoL, avoids or postpones tracheotomy, and relieves symptoms.

• Respiratory muscle training improves strength of inspiratory muscles.

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Iolascon, G., Vitacca, M., Carraro, E. et al. Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach. Neurol Sci 41, 859–868 (2020). https://doi.org/10.1007/s10072-019-04178-7

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