title: [Pompe disease is a differential diagnosis in case of reduced physical capacity and abnormal muscular fatigue].
abstract: 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.
authors.affiliation: Neurologisk Afdeling F, Aarhus Universitetshospital, Nørrebrogade 44, 8000 Aarhus C. E-mail: julihans@rm.dk.
authors.forename: Julie Schjødtz
authors.initials: JS
authors.lastname: Hansen
authors.forename: Anne R
authors.initials: AR
authors.lastname: Ellingsen
authors.forename: Caroline M
authors.initials: CM
authors.lastname: Andreasen
authors.forename: Anne
authors.initials: A
authors.lastname: Grosen
authors.forename: Henning
authors.initials: H
authors.lastname: Andersen
mesh_terms: D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D006801:Humans; D018763:Muscle Fatigue / Q000235:genetics; D055815:Young Adult