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Pompes sygdom er en differentialdiagnose ved muskelsvaghed og abnorm træthed

Julie Schjødtz Hansen1, Anne R. Ellingsen2, Caroline M. Andreasen3, Anne Grosen4 & Henning Andersen1 1) Neurologisk Afdeling F, Aarhus Universitetshospital2) Patologisk Institut, Aarhus Universitet3) Reumatologisk Afdeling U, Aarhus Universitetshospital 4) Medicinsk Hepato-gastroenterologisk Afdeling V, Aarhus Universitetshospital Ugeskr Læger 2014;176:V03140178
Ugeskr Læger 2014;176:V03140178
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Pompe disease is a differential diagnosis in case of reduced physical capacity and abnormal muscular fatigue
Late-onset Pompe disease is an inherited metabolic myopathy with low activity of alpha glucosidase and variable clinical symptoms. In this case report we describe a woman with long standing muscular fatigue and malaise with the diagnosis initially established by pathologic findings in the muscle biopsy. Enzyme replacement therapy is now a treatment option, and a prompt diagnosis is therefore relevant. This disease should be considered in patients with unexplained fatigue and reduced physical capacity, especially in case of concurrent elevated levels of creatine kinase and liver enzymes.
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