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A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers |
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| Authors: | van den Berg Linda E M de Vries Juna M Verdijk Robert M van der Ploeg Ans T Reuser Arnold J J van Doorn Pieter A |
| Affiliation: | a Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands b Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands c Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands d Department of Pathology, Erasmus MC University Medical Center, Rotterdam, The Netherlands |
| 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. |
| Keywords: | Muscle pathology Muscle fiber type Fatigue Lysosomal storage disease Glycogenosis type II |
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