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Case 52 - Pompe Disease (Glycogen Storage Disease (GSD) Type II; α-Glucosidase Deficiency)

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 49-year-old man, who had always been very active, noted backache and pain in his neck starting four years ago. During this period, it became more difficult to rise from a chair and from his bed, to climb the stairs, or to carry heavy objects. Walking became a bit more difficult over time. He still went to the gym, but noticed that flexing his knees against resistance became more difficult. He slept well, could easily lie flat during the night, and did not experience myalgia, and there were no sensory disturbances. There were no symptoms of respiratory insufficiency. Family history was unremarkable.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 218 - 223
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Bolano-Diaz, C, Diaz-Manera, J. Therapeutic options for the management of Pompe disease: current challenges and clinical evidence in therapeutics and clinical risk management. Ther Clin Risk Manag 2022;18:10991115. doi: 10.2147/TCRM.S334232. PMID: 36536827; PMCID: PMC9759116.CrossRefGoogle ScholarPubMed
Diaz-Manera, J, Kishnani, PS, Kushlaf, H, et al.; COMET Investigator Group. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Lancet Neurol 2021;20(12):10121026. PMID: 34800399.CrossRefGoogle Scholar
Dimachkie, MM, Barohn, RJ, Byrne, B, et al.; NEO-EXT investigators.Long-term safety and efficacy of avalglucosidase alfa in patients with late-onset Pompe disease. Neurology 2022;99(5):e536e548. doi: 10.1212/WNL.0000000000200746. Epub ahead of print. PMID: 35618441; PMCID: PMC9421599.CrossRefGoogle ScholarPubMed
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Schoser, B, Laforet, P. Therapeutic thoroughfares for adults living with Pompe disease. Curr Opin Neurol 2022;35(5):645650. doi: 10.1097/WCO.0000000000001092. Epub 2022 Aug 8. PMID: 35942661.Google ScholarPubMed
Schoser, B, Roberts, M, Byrne, BJ, et al.; PROPEL Study Group. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Lancet Neurol 2021;20(12):10271037. doi: 10.1016/S1474-4422(21)00331-8. Erratum in: Lancet Neurol 2023 Aug 9; PMID: 34800400.CrossRefGoogle ScholarPubMed
van der Beek, NA, de Vries, JM, Hagemans, ML, et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis 2012;7:88. doi: 10.1186/1750-1172-7-88. PMID: 23147228; PMCID: PMC3551719.Google Scholar
van der Ploeg, AT, Kruijshaar, ME, Toscano, A, et al.; European Pompe Consortium. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol 2017;24(6):768–e31. doi: 10.1111/ene.13285. Epub 2017 May 6. PMID: 28477382.Google Scholar
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