Rehabilitation Program

Physical Therapy

Little information has been published regarding the physiatric management of Pompe disease, probably owing to the lack of a specific treatment, the relentlessly progressive course, and the fatal outcome of the disease.

In the juvenile and adult forms of acid maltase deficiency (AMD), it would seem intuitive to focus physiatric treatment on the systems involved.

The use of assistive devices and orthoses may prove beneficial in patients with AMD who develop ambulatory difficulties. The use of intermittent positive pressure ventilation in Pompe disease would seem appropriate; however, because the disease involves not just the respiratory muscles but also the heart, the final outcome is likely to be the same.

Due to extended survival and musculoskeletal involvement, physiatric and orthopedic treatment may gain in importance.

A study by Jones et al found that adult patients with late-onset AMD who underwent a 12-week respiratory muscle training program achieved large to very large increases in inspiratory and expiratory muscle strength, with these improvements enduring relatively well even after 3 months’ detraining. The study involved eight patients.^[17]

Medication

Morales JA, Anilkumar AC. Glycogen Storage Disease Type II (Pompe Disease). StatPearls. 2020 Jan. [QxMD MEDLINE Link]. [Full Text].
Fukuda T, Roberts A, Plotz PH, et al. Acid alpha-glucosidase deficiency (Pompe disease). Curr Neurol Neurosci Rep. 2007 Jan. 7(1):71-7. [QxMD MEDLINE Link].
van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008 Oct 11. 372(9646):1342-53. [QxMD MEDLINE Link].
Bembi B, Cerini E, Danesino C, et al. Management and treatment of glycogenosis type II. Neurology. 2008 Dec 2. 71(23 Suppl 2):S12-36. [QxMD MEDLINE Link].
Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005 Mar. 128(Pt 3):671-7. [QxMD MEDLINE Link]. [Full Text].
Hagemans ML, Winkel LP, Hop WC, et al. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005 Jun 28. 64(12):2139-41. [QxMD MEDLINE Link].
Hagemans ML, Hop WJ, Van Doorn PA, et al. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology. 2006 Feb 28. 66(4):581-3. [QxMD MEDLINE Link].
Muller-Felber W, Horvath R, Gempel K, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007 Oct. 17(9-10):698-706. [QxMD MEDLINE Link].
Van der Beek NA, Hagemans ML, Reuser AJ, et al. Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord. 2009 Feb. 19(2):113-7. [QxMD MEDLINE Link].
Vissing J, Lukacs Z, Straub V. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. JAMA Neurol. 2013 Jul. 70(7):923-7. [QxMD MEDLINE Link].
Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology. 2008 Dec 2. 71(23 Suppl 2):S4-11. [QxMD MEDLINE Link].
Richard E, Douillard-Guilloux G, Caillaud C. New insights into therapeutic options for Pompe disease. IUBMB Life. 2011 Nov. 63(11):979-86. [QxMD MEDLINE Link].
Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, et al. Pompe disease gene therapy. Hum Mol Genet. 2011 Apr 15. 20:R61-8. [QxMD MEDLINE Link]. [Full Text].
Manganelli F, Ruggiero L. Clinical features of Pompe disease. Acta Myol. 2013 Oct. 32(2):82-4. [QxMD MEDLINE Link]. [Full Text].
Papadimas GK, Spengos K, Papadopoulos C, Manta P. Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis. Eur Neurol. 2011 Dec 15. 67(2):65-68. [QxMD MEDLINE Link].
Jones HN, Hobson-Webb LD, Kuchibhatla M, et al. Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy. Mol Genet Metab. 2021 Jul. 133 (3):261-8. [QxMD MEDLINE Link].
Jones HN, Crisp KD, Robey RR, Case LE, Kravitz RM, Kishnani PS. Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): effects of training and detraining. Mol Genet Metab. 2016 Feb. 117 (2):120-8. [QxMD MEDLINE Link].
Parenti G, Andria G. Pompe disease: from new views on pathophysiology to innovative therapeutic strategies. Curr Pharm Biotechnol. 2011 Jun. 12(6):902-15. [QxMD MEDLINE Link].
Nicolino M, Byrne B, Wraith JE, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar. 11(3):210-219. [QxMD MEDLINE Link].
Anderson LJ, Henley W, Wyatt KM, et al. Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study. J Inherit Metab Dis. 2014 Jun 7. [QxMD MEDLINE Link].
Van den Hout H, Reuser AJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet. 2000 Jul 29. 356(9227):397-8. [QxMD MEDLINE Link].
Rossi M, Parenti G, Della Casa R, et al. Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells. J Child Neurol. 2007 May. 22(5):565-73. [QxMD MEDLINE Link].
Kuperus E, Kruijshaar ME, Wens SCA, et al. Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study. Neurology. 2017 Dec 5. 89 (23):2365-73. [QxMD MEDLINE Link].
Semplicini C, De Antonio M, Taouagh N, et al. Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry. J Inherit Metab Dis. 2020 Jun 9. [QxMD MEDLINE Link].
Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics. 2008 Oct. 5(4):569-78. [QxMD MEDLINE Link]. [Full Text].
Güngör D, de Vries JM, Brusse E, Kruijshaar ME, Hop WC, Murawska M, et al. Enzyme replacement therapy and fatigue in adults with Pompe disease. Mol Genet Metab. 2013 Jun. 109(2):174-8. [QxMD MEDLINE Link].
FDA. FDA expands approval of drug to treat Pompe disease to patients of all ages; removes risk mitigation strategy requirements. US Food and Drug Administration. Available at http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm407563.htm. Accessed: Apr 28, 2016.

Media Gallery

Glycogen molecule; by cleaving glycogen's 1,4 and 1,6 alpha-glycosidic linkages, the enzyme acid maltase gives rise to free glucose molecules.
Metabolic pathways of carbohydrates.

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Author

Stephen Kishner, MD, MHA Professor of Clinical Medicine, Physical Medicine and Rehabilitation Residency Program Director, Louisiana State University School of Medicine in New Orleans

Stephen Kishner, MD, MHA is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

Eric F Sterne, MD Resident Physician, Department of Physical Medicine and Rehabilitation, Louisiana State University School of Medicine in New Orleans

Eric F Sterne, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Medical Association, Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kat Kolaski, MD Assistant Professor, Departments of Orthopedic Surgery and Pediatrics, Wake Forest University School of Medicine

Kat Kolaski, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Chief Editor

Additional Contributors

Elizabeth A Moberg-Wolff, MD Medical Director, Pediatric Rehabilitation Medicine Associates

Elizabeth A Moberg-Wolff, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Physical Medicine and Rehabilitation

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Merz.

Acknowledgements

Frank J King, MD Clinical Instructor, Department of Physical Medicine and Rehabilitation, Georgia Pain Physicians/Emory School of Medicine

Frank J King, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Medical Association, and Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Daniel A Lee, MD Intern, Department of Family Medicine, Contra Costa Regional Medical Center

Disclosure: Nothing to disclose.

Michael Weinik, DO Associate Chairman, Associate Professor, Physical Medicine and Rehabilitation, Temple University Hospital

Michael Weinik, DO is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.