title: A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers.
abstract: We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might contribute to the clinical heterogeneity in Pompe disease and the variable response to enzyme replacement therapy.
authors.affiliation: Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. l.vandenberg@erasmusmc.nl
authors.forename: Linda E M
authors.initials: LE
authors.lastname: van den Berg
authors.forename: Juna M
authors.initials: JM
authors.lastname: de Vries
authors.forename: Robert M
authors.initials: RM
authors.lastname: Verdijk
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
authors.forename: Arnold J J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: Pieter A
authors.initials: PA
authors.lastname: van Doorn
mesh_terms: D000328:Adult; D001706:Biopsy / Q000379:methods; D005221:Fatigue / Q000209:etiology*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000473:pathology*; D006801:Humans; D018657:Muscle Fibers, Slow-Twitch / Q000502:physiology*