Case 52 - Pompe Disease (Glycogen Storage Disease (GSD) Type II; α-Glucosidase Deficiency)
from Myopathies
Published online by Cambridge University Press: 29 November 2024
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.
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- Neuromuscular DiseaseA Case-Based Approach, pp. 218 - 223Publisher: Cambridge University PressPrint publication year: 2024
References
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