Pompe disease, also known as glycogen storage disorder type II and acid maltase deficiency, is a rare metabolic myopathy. It is caused by a deficiency of lysosomal acid α-glucosidase which results in the accumulation of glycogen in cells, especially muscle cells. The disease presents as a broad clinical spectrum with progressive muscle weakness as prominent symptom and can hence be categorized as a lysosomal storage disorder, a glycogen storage disorder and also as a neuromuscular disorder. The broad term “neuromuscular disorders” encompasses many different syndromes and diseases that either directly or indirectly impair the function of the skeletal muscles, the muscles that enables to move the limbs and trunk. Myopathies, diseases of the muscle itself, are a subgroup of neuromuscular disorders and include muscular dystrophies, inflammatory disorders of the muscle and metabolic diseases of the muscle. Pompe disease was the first myopathy for which treatment became available. Enzyme replacement therapy (ERT) is the registered treatment for Pompe disease. It was shown to elicit positive effects first in babies with the most severe form of the disease1-5 and later also in children and adults with more slowly progressive forms of the disease.6-16 Despite improvements in skeletal muscle strength, walking distance, respiratory function and survival, not all patients respond equally well to treatment and not all muscle damage and functional impairment is resolved.14,17,18 Long-term clinical programs should therefore also focus on comorbidities and additional strategies to improve patients’ functioning. This thesis explores the muscle pathology in Pompe disease across the clinical spectrum, the interplay between skeletal muscle dysfunction and bone structure and the effect of enzyme therapy on it, as well as the use of exercise training to improve patients’ functioning. This introductory chapter gives an overview of the history, pathophysiology, clinical characteristics, diagnosis and treatment of Pompe disease and reviews the use of exercise training programs in myopathies.

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Keywords Pompe Disease, musculoskeletal system, pathology, glycogen storage disorder, acid maltase deficiency, neuromuscular disorders
Promotor A.T. van der Ploeg (Ans)
Publisher Erasmus University Rotterdam
Sponsor The research described in this thesis was supported by grants obtained from the Erasmus MC Revolving Fund [NAMEvdB, project no 1054], the Prinses Beatrix Fonds [Grant OP07- 08], ZonMW – The Netherlands Organisation for Health Research and Development [Grant 152001005], European Union, 7th Framework Programme “EUCLYD – a European Consortium for Lysosomal Storage Diseases” [health F2/2008 grant agreement 201678], and Genzyme Corporation, Cambridge, MA, USA. Financial support for the publication of this thesis was obtained from Stichting Spierziekten Nederland and VSG (Vereniging voor Sportgeneeskunde.
ISBN 978-94-6259-208-7
Persistent URL hdl.handle.net/1765/51599
van den Berg, L.E.M. (2014, June 24). The Musculoskeletal System in Pompe Disease: Pathology, consequences and treatment options. Erasmus University Rotterdam. Retrieved from http://hdl.handle.net/1765/51599